Pub Date : 2024-03-21DOI: 10.1097/ms9.0000000000001971
H. Kamil, Riffa Alassri, Douaa Belal, Abu Baker Alassri, N. Martini, Jaber Mahmod
Congenital insensitivity to pain (CIP) is a rare condition where individuals are born with an inability to perceive pain. This can lead to various complications in the skin, skeletal system, and other bodily systems. Chronic osteomyelitis is one of the possible manifestations of CIP, which can be difficult to diagnose and treat due to the lack of pain as a diagnostic criterion. a 5-year-old boy with CIP, developed chronic osteomyelitis in his right leg, presented with fever, claudication, swelling, and local heat for two months. He had a history of CIP since birth, diagnosed at 18 months of age. He also had a family history of CIP. He had previously suffered a shoulder fracture and had taken asthma medication for one year. He had experienced tonsillitis two months ago. On examination, He had hepatomegaly, enlarged lymph nodes in the groin, and a minor swelling on the right knee. He had an audible snapping sound during knee flexion. Blood tests showed increased inflammatory markers. Imaging studies confirmed presence of osteomyelitis and bone biopsy revealed infection with Staphylococcus aureus. Treatment included Vancomycin, Cefotaxime and orally administered Prednisolone. Genetic factors behind CIP were discussed, highlighting challenges in diagnosis. Manifestations of CIP, diverse and age-related, include orthopedic issues, ophthalmological effects, and thermoregulation disturbances. The patient’s case is presented with unique features, necessitating a comprehensive diagnostic approach. This case highlights the challenges faced in diagnosing osteomyelitis among CIP patients and emphasizes the need for other diagnostic criteria apart from pain.
{"title":"A challenging diagnosis of chronic osteomyelitis in a child with congenital insensitivity to pain: A case report","authors":"H. Kamil, Riffa Alassri, Douaa Belal, Abu Baker Alassri, N. Martini, Jaber Mahmod","doi":"10.1097/ms9.0000000000001971","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001971","url":null,"abstract":"\u0000 \u0000 Congenital insensitivity to pain (CIP) is a rare condition where individuals are born with an inability to perceive pain. This can lead to various complications in the skin, skeletal system, and other bodily systems. Chronic osteomyelitis is one of the possible manifestations of CIP, which can be difficult to diagnose and treat due to the lack of pain as a diagnostic criterion.\u0000 \u0000 \u0000 \u0000 a 5-year-old boy with CIP, developed chronic osteomyelitis in his right leg, presented with fever, claudication, swelling, and local heat for two months. He had a history of CIP since birth, diagnosed at 18 months of age. He also had a family history of CIP. He had previously suffered a shoulder fracture and had taken asthma medication for one year. He had experienced tonsillitis two months ago. On examination, He had hepatomegaly, enlarged lymph nodes in the groin, and a minor swelling on the right knee. He had an audible snapping sound during knee flexion. Blood tests showed increased inflammatory markers. Imaging studies confirmed presence of osteomyelitis and bone biopsy revealed infection with Staphylococcus aureus. Treatment included Vancomycin, Cefotaxime and orally administered Prednisolone.\u0000 \u0000 \u0000 \u0000 Genetic factors behind CIP were discussed, highlighting challenges in diagnosis. Manifestations of CIP, diverse and age-related, include orthopedic issues, ophthalmological effects, and thermoregulation disturbances. The patient’s case is presented with unique features, necessitating a comprehensive diagnostic approach.\u0000 \u0000 \u0000 \u0000 This case highlights the challenges faced in diagnosing osteomyelitis among CIP patients and emphasizes the need for other diagnostic criteria apart from pain.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":" 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140220923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-21DOI: 10.1097/ms9.0000000000001993
Elham Abdalla, Abrar Mohamed Gamar, Z. Taha, Mohammed Alfatih
Diabetic cheiroarthropathy, also known as limited joint mobility, is one of the long-standing complications of type 2 Diabetes Mellitus (DM). It affects 8-50% of patients with type 1 diabetes and is also seen in type 2 diabetic patients. Consequently, it can mimic many rheumatological diseases and is often underdiagnosed. We present a case of a long-standing poorly controlled diabetes with diabetic cheiroarthropathy and diabetic neuropathy, along with positive ANA in the absence of any correlated autoimmune or rheumatological diseases. A 52-year-old female patient with poorly controlled diabetes (her last HbA1c reading was 9.5%) presented to Rheumatology clinic with flexion deformities of the fingers. The patient has impaired vibration, two-point discrimination and pinprick sensation in gloves and stock distribution, indicating peripheral neuropathy, entrapment neuropathy in the forms of bilateral carpal tunnel syndrome, and the diagnosis of diabetic cheiroarthropathy was made. Additionally, she has a positive prayer sign and tabletop sign. Despite the absence of symptoms and signs of autoimmune disorders, this patient has positive antinuclear antibodies global (ANA positive by Indirect Immuno-Fluorescence (IIF) 1320 nucleolar pattern) with a negative: ANA profile, rheumatoid factor (RF) and Anticyclic Citrullinated Peptide Antibody (ACPA). Regular and careful hands examination should be part of clinical assessment for diabetic patients as it could be a very simple and useful screening tool for diabetic cheiroarthropathy. Physicians can use this condition as a mirror for microvascular complications of diabetes. This allows for early detection and appropriate interventions to prevent further progression of diabetes-related complications. It is also essential to consider the presence of positive ANA in diabetic cheiroarthropathy despite the absence of any rheumatological and autoimmune diseases.
{"title":"Diabetic cheiroarthropathy in uncontrolled Type 2 diabetes with positive Anti-Nuclear Antibodies: a case report from Sudan","authors":"Elham Abdalla, Abrar Mohamed Gamar, Z. Taha, Mohammed Alfatih","doi":"10.1097/ms9.0000000000001993","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001993","url":null,"abstract":"\u0000 \u0000 Diabetic cheiroarthropathy, also known as limited joint mobility, is one of the long-standing complications of type 2 Diabetes Mellitus (DM). It affects 8-50% of patients with type 1 diabetes and is also seen in type 2 diabetic patients. Consequently, it can mimic many rheumatological diseases and is often underdiagnosed. We present a case of a long-standing poorly controlled diabetes with diabetic cheiroarthropathy and diabetic neuropathy, along with positive ANA in the absence of any correlated autoimmune or rheumatological diseases.\u0000 \u0000 \u0000 \u0000 A 52-year-old female patient with poorly controlled diabetes (her last HbA1c reading was 9.5%) presented to Rheumatology clinic with flexion deformities of the fingers. The patient has impaired vibration, two-point discrimination and pinprick sensation in gloves and stock distribution, indicating peripheral neuropathy, entrapment neuropathy in the forms of bilateral carpal tunnel syndrome, and the diagnosis of diabetic cheiroarthropathy was made. Additionally, she has a positive prayer sign and tabletop sign. Despite the absence of symptoms and signs of autoimmune disorders, this patient has positive antinuclear antibodies global (ANA positive by Indirect Immuno-Fluorescence (IIF) 1320 nucleolar pattern) with a negative: ANA profile, rheumatoid factor (RF) and Anticyclic Citrullinated Peptide Antibody (ACPA).\u0000 \u0000 \u0000 \u0000 Regular and careful hands examination should be part of clinical assessment for diabetic patients as it could be a very simple and useful screening tool for diabetic cheiroarthropathy. Physicians can use this condition as a mirror for microvascular complications of diabetes. This allows for early detection and appropriate interventions to prevent further progression of diabetes-related complications. It is also essential to consider the presence of positive ANA in diabetic cheiroarthropathy despite the absence of any rheumatological and autoimmune diseases.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"69 s282","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140223100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-21DOI: 10.1097/ms9.0000000000001954
Mohammad Milhem, Daleen Shehadeh, Yasmeen Abu Nawa, Roa Arman, Lara Masri, Zeena Salman, Mohammad Najajreh
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder impacting multiple organs. Characterized by renal dysfunction, retinal dystrophy, obesity, polydactyly, intellectual disability, and hypogonadism, it lacks targeted treatment. Diagnosis relies on clinical criteria, and management emphasizes early detection, complication screening, and genetic counseling. A 4-year-old boy, born to first-cousin parents, presented with refractory iron deficiency anemia (IDA) and recurrent respiratory infections. Prenatal ultrasound revealed renal and limb anomalies. Physical examination showed dysmorphic features, polydactyly, and a giant congenital nevus. Genetic testing revealed a homozygous MKKS variant. Despite oral iron, severe IDA persisted. Intravenous iron therapy yielded significant improvement. BBS, an autosomal recessive ciliopathy, involves various genes. In this case, the MKKS gene variant contributed to the syndrome. The incidence of BBS in the Arab population is discussed, emphasizing its rarity and varied clinical presentations. Incidence in the Arab population, including Palestine, is 1 in 13,500. Diagnostic criteria, encompassing major and minor features, highlight BBS complexity. Renal anomalies, visual disturbances, and cutaneous manifestations are common. Multidisciplinary care addresses systemic involvement, with emerging treatments like setmelanotide. This case underscores BBS rarity and complexity, featuring unique aspects like giant nevi and refractory IDA. Comprehensive management addresses renal, visual, cardiac, and neurologic aspects. Genetic counseling, prenatal testing, and preimplantation genetic diagnosis prevent transmission. Limitations include lacking local epidemiological data and prior studies in Palestine. This case contributes insights, stressing multidisciplinary management and prompting further research in underexplored populations.
{"title":"Bardet-biedl syndrome with unique manifestations of congenital giant nevi and refractory Anemia: A case report from palestine","authors":"Mohammad Milhem, Daleen Shehadeh, Yasmeen Abu Nawa, Roa Arman, Lara Masri, Zeena Salman, Mohammad Najajreh","doi":"10.1097/ms9.0000000000001954","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001954","url":null,"abstract":"\u0000 \u0000 Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder impacting multiple organs. Characterized by renal dysfunction, retinal dystrophy, obesity, polydactyly, intellectual disability, and hypogonadism, it lacks targeted treatment. Diagnosis relies on clinical criteria, and management emphasizes early detection, complication screening, and genetic counseling.\u0000 \u0000 \u0000 \u0000 A 4-year-old boy, born to first-cousin parents, presented with refractory iron deficiency anemia (IDA) and recurrent respiratory infections. Prenatal ultrasound revealed renal and limb anomalies. Physical examination showed dysmorphic features, polydactyly, and a giant congenital nevus. Genetic testing revealed a homozygous MKKS variant. Despite oral iron, severe IDA persisted. Intravenous iron therapy yielded significant improvement.\u0000 \u0000 \u0000 \u0000 BBS, an autosomal recessive ciliopathy, involves various genes. In this case, the MKKS gene variant contributed to the syndrome. The incidence of BBS in the Arab population is discussed, emphasizing its rarity and varied clinical presentations. Incidence in the Arab population, including Palestine, is 1 in 13,500. Diagnostic criteria, encompassing major and minor features, highlight BBS complexity. Renal anomalies, visual disturbances, and cutaneous manifestations are common. Multidisciplinary care addresses systemic involvement, with emerging treatments like setmelanotide.\u0000 \u0000 \u0000 \u0000 This case underscores BBS rarity and complexity, featuring unique aspects like giant nevi and refractory IDA. Comprehensive management addresses renal, visual, cardiac, and neurologic aspects. Genetic counseling, prenatal testing, and preimplantation genetic diagnosis prevent transmission. Limitations include lacking local epidemiological data and prior studies in Palestine. This case contributes insights, stressing multidisciplinary management and prompting further research in underexplored populations.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":" 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140220885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Differential diagnosis of bipolar II disorder (BD-II) and borderline personality disorder (BPD) has always been challenging for clinicians due symptoms’ overlap. This study aimed to compare hot and cold executive functions (EFs) in BDII patients, BPD and healthy controls (HCs) in order to differentiate these two disorders. In the present study, 30 BDII and 30 BPD patients, undergoing the drug therapy with mood stabilizers, and 30 HC were examined using EFs evaluated tests. The data were then analyzed with the use of ANOVA and Tukey post hoc test. The BD-II Patients had significantly lower performance in all of the cold EFs than the HC. Also, BPD Patients had meaningfully lesser performance compared to HC in all cold EFs except the sustained attention. No significant difference was perceived between the two patient groups in the cold EFs. In BD-II patients, the risky decision-making as a hot EFs’ component was not significantly different from HC; nevertheless, its amount was significantly higher in BPD than the HC and BD-II patients. These findings underline the differences between two mentioned disorders based on the hot EFs, which may indicate further disorder in emotional information processing system among the BPD patients.
由于双相情感障碍 II（BD-II）和边缘型人格障碍（BPD）的症状重叠，临床医生对这两种疾病的鉴别诊断一直面临挑战。本研究旨在比较双相情感障碍 II 患者、边缘型人格障碍患者和健康对照组（HCs）的冷热执行功能（EFs），以区分这两种障碍。 在本研究中，30 名正在接受情绪稳定剂药物治疗的 BDII 和 BPD 患者以及 30 名健康对照者接受了执行功能评估测试。然后使用方差分析和 Tukey 后验法对数据进行分析。 BD-II患者在所有冷EFs中的表现都明显低于HC。此外，除持续注意外，BPD 患者在所有冷EF方面的表现都明显低于HC。两组患者在冷EF方面没有明显差异。在 BD-II 患者中，作为热 EFs 组成部分的风险决策与 HC 没有显著差异；然而，BPD 患者的风险决策量显著高于 HC 和 BD-II 患者。 这些发现强调了上述两种疾病在热EFs方面的差异，这可能表明BPD患者的情绪信息处理系统进一步失调。
{"title":"The comparison of hot and cold executive functions in patients with bipolar II disorder, borderline personality disorder, and healthy individuals","authors":"Ayyub Sabbah, Shekoofeh Mottaghi, Parviz Ghaedi, Melika Ghalandari","doi":"10.1097/ms9.0000000000001981","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001981","url":null,"abstract":"\u0000 \u0000 Differential diagnosis of bipolar II disorder (BD-II) and borderline personality disorder (BPD) has always been challenging for clinicians due symptoms’ overlap. This study aimed to compare hot and cold executive functions (EFs) in BDII patients, BPD and healthy controls (HCs) in order to differentiate these two disorders.\u0000 \u0000 \u0000 \u0000 In the present study, 30 BDII and 30 BPD patients, undergoing the drug therapy with mood stabilizers, and 30 HC were examined using EFs evaluated tests. The data were then analyzed with the use of ANOVA and Tukey post hoc test.\u0000 \u0000 \u0000 \u0000 The BD-II Patients had significantly lower performance in all of the cold EFs than the HC. Also, BPD Patients had meaningfully lesser performance compared to HC in all cold EFs except the sustained attention. No significant difference was perceived between the two patient groups in the cold EFs. In BD-II patients, the risky decision-making as a hot EFs’ component was not significantly different from HC; nevertheless, its amount was significantly higher in BPD than the HC and BD-II patients.\u0000 \u0000 \u0000 \u0000 These findings underline the differences between two mentioned disorders based on the hot EFs, which may indicate further disorder in emotional information processing system among the BPD patients.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"55 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140230357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-19DOI: 10.1097/ms9.0000000000001717
Zohreh Salimi, Mehdi Afsharinasab, Mehdi Rostami, Yaser Eshaghi Milasi, Seyede Fatemeh Mousavi Ezmareh, Fariba Sakhaei, Maryam Mohammad-Sadeghipour, Sayyed Mehdi Rasooli Manesh, Z. Asemi
The concentration of iron is tightly regulated, making it an essential element. Various cellular processes in the body rely on iron, such as oxygen sensing, oxygen transport, electron transfer, and DNA synthesis. Iron excess can be toxic because it participates in redox reactions that catalyze the production of reactive oxygen species (ROS) and elevate oxidative stress. Iron chelators are chemically diverse; they can coordinate six ligands in an octagonal sequence. Because of the ability of chelators to trap essential metals, including iron, they may involve in diseases caused by oxidative stress, such as infectious diseases, cardiovascular diseases, neurodegenerative diseases, and cancer. Iron chelating agents, by tightly binding to iron, prohibit it from functioning as a catalyst in redox reactions and transfer iron and excrete it from the body. Thus, using iron chelators as therapeutic agents has received increasing consideration. This review investigates the function of various iron chelators in treating iron overload in different clinical conditions.
铁的浓度受到严格调控，是人体必需的元素。人体内的各种细胞过程都依赖于铁，如氧感应、氧运输、电子传递和 DNA 合成。铁过量会产生毒性，因为它参与氧化还原反应，催化活性氧（ROS）的产生，加剧氧化应激。铁螯合剂的化学性质多种多样；它们能以八角形顺序配位六个配体。由于螯合剂具有捕获包括铁在内的必需金属的能力，它们可能会参与由氧化应激引起的疾病，如传染病、心血管疾病、神经退行性疾病和癌症。铁螯合剂通过与铁紧密结合，阻止铁在氧化还原反应中发挥催化作用，并将铁转移和排出体外。因此，越来越多的人考虑使用铁螯合剂作为治疗药物。本综述探讨了各种铁螯合剂在不同临床情况下治疗铁过载的功能。
{"title":"Iron chelators: as therapeutic agents in diseases","authors":"Zohreh Salimi, Mehdi Afsharinasab, Mehdi Rostami, Yaser Eshaghi Milasi, Seyede Fatemeh Mousavi Ezmareh, Fariba Sakhaei, Maryam Mohammad-Sadeghipour, Sayyed Mehdi Rasooli Manesh, Z. Asemi","doi":"10.1097/ms9.0000000000001717","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001717","url":null,"abstract":"The concentration of iron is tightly regulated, making it an essential element. Various cellular processes in the body rely on iron, such as oxygen sensing, oxygen transport, electron transfer, and DNA synthesis. Iron excess can be toxic because it participates in redox reactions that catalyze the production of reactive oxygen species (ROS) and elevate oxidative stress. Iron chelators are chemically diverse; they can coordinate six ligands in an octagonal sequence. Because of the ability of chelators to trap essential metals, including iron, they may involve in diseases caused by oxidative stress, such as infectious diseases, cardiovascular diseases, neurodegenerative diseases, and cancer. Iron chelating agents, by tightly binding to iron, prohibit it from functioning as a catalyst in redox reactions and transfer iron and excrete it from the body. Thus, using iron chelators as therapeutic agents has received increasing consideration. This review investigates the function of various iron chelators in treating iron overload in different clinical conditions.","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"70 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140229950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-19DOI: 10.1097/ms9.0000000000001936
Pascal Grün, F. Pfaffeneder-Mantai, Nikolai Leunig, Ditjon Bytyqi, Cornelia Maier, Martin Gencik, Patrick Bandura, D. Turhani
Oligodontia is a rare genetic condition characterised by more than six congenitally missing teeth, either as an isolated non-syndromic condition or in association with other genetic syndromes. The impact of WNT10A variants on dental development increases with the presence of the c.321C>A variant and the number of missing teeth. A 21-year-old man with non-syndromic oligodontia was diagnosed at 15 years of age with misaligned teeth, speech problems, and the absence of 24 permanent teeth. Interdisciplinary collaboration between specialists was initiated to enable comprehensive treatment. DNA analysis confirmed that the patient was a carrier of the known pathogenic WNT10A variant c321C>A and WNT10A variant c.113G>T of unknown clinical significance. Dental implants are a common treatment; however, bone development challenges in adolescent patients with non-syndromic oligodontia necessitate careful planning to ensure implant success. Many WNT variants play crucial roles in tooth development and are directly involved in non-syndromic oligodontia, especially the WNT10 variant c.321C>A. A full-arch implant-supported monolithic zirconia screw-retained fixed prosthesis is a viable treatment option for young adults with non-syndromic oligodontia. Further studies are needed to clarify the possible amplifying effect of the WNT10A variants c321C>A and c.113G>T on the pathogenic phenotype of non-syndromic oligodontia.
{"title":"Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: case report","authors":"Pascal Grün, F. Pfaffeneder-Mantai, Nikolai Leunig, Ditjon Bytyqi, Cornelia Maier, Martin Gencik, Patrick Bandura, D. Turhani","doi":"10.1097/ms9.0000000000001936","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001936","url":null,"abstract":"\u0000 \u0000 Oligodontia is a rare genetic condition characterised by more than six congenitally missing teeth, either as an isolated non-syndromic condition or in association with other genetic syndromes. The impact of WNT10A variants on dental development increases with the presence of the c.321C>A variant and the number of missing teeth.\u0000 \u0000 \u0000 \u0000 A 21-year-old man with non-syndromic oligodontia was diagnosed at 15 years of age with misaligned teeth, speech problems, and the absence of 24 permanent teeth. Interdisciplinary collaboration between specialists was initiated to enable comprehensive treatment. DNA analysis confirmed that the patient was a carrier of the known pathogenic WNT10A variant c321C>A and WNT10A variant c.113G>T of unknown clinical significance.\u0000 \u0000 \u0000 \u0000 Dental implants are a common treatment; however, bone development challenges in adolescent patients with non-syndromic oligodontia necessitate careful planning to ensure implant success. Many WNT variants play crucial roles in tooth development and are directly involved in non-syndromic oligodontia, especially the WNT10 variant c.321C>A.\u0000 \u0000 \u0000 \u0000 A full-arch implant-supported monolithic zirconia screw-retained fixed prosthesis is a viable treatment option for young adults with non-syndromic oligodontia. Further studies are needed to clarify the possible amplifying effect of the WNT10A variants c321C>A and c.113G>T on the pathogenic phenotype of non-syndromic oligodontia.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"56 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140231070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-19DOI: 10.1097/ms9.0000000000001964
H. Bharadwaj, Nicholas Aderinto, Syed Hasham Ali, Joecelyn Kirani Tan, Arkadeep Dhali, Khabab Abbasher Hussein Mohamed Ahmed
{"title":"Call for intervention and analysis of the rise in young onset gastrointestinal cancers in low- and middle-income countries: An editorial","authors":"H. Bharadwaj, Nicholas Aderinto, Syed Hasham Ali, Joecelyn Kirani Tan, Arkadeep Dhali, Khabab Abbasher Hussein Mohamed Ahmed","doi":"10.1097/ms9.0000000000001964","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001964","url":null,"abstract":"","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"52 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140231128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tuberculosis was one of the most devastating diseases to humanity in recent decades, although pulmonary infection is the most common, Infection of any other organ is familiar as well. Colon cancer is another disease affecting the GI system and mostly targets people over 50. Only few studies mentioned the co-existence of cancer and tuberculosis occurring at the same place and time. Hence, we report a rare case of concurrent ascending colon adenocarcinoma and colonic tuberculosis. A 49 -year-old man presented to our clinic with constipation and abdominal pain. Two colonoscopies were performed and two biopsies were taken, the first one showed granulomatous inflammation consistent with TB, the second one showed low grade adenocarcinoma. Computed tomography showed annular thickening of the ascending colon with infiltrates around the lesions. A right hemicolectomy was performed the final pathology confirmed adenocarcinoma grade II and extensive tuberculosis granulomas involving colon into the serosa and the lymph nodes. Anti-TB medications were administered after surgery. Due to appropriate diagnostic methods, TB and cancer were detected at an early stage. In our treatment protocol, no adjuvant chemotherapy was applied after surgery due to the possibility of drug interaction with Anti-TB medications. the two diseases may co-exist thus diagnosing them may not be the easiest, not to mention the lack of a clear treatment protocol in case of their accompany.
{"title":"Concurrent ascending colon adenocarcinoma and colonic tuberculosis: a case report from Syria","authors":"Basel Ahmad, Suzana Durra, Sabine Tayfour, Sandra Habka, Bassel Albatal, Mohamad Ahmad","doi":"10.1097/ms9.0000000000001927","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001927","url":null,"abstract":"\u0000 \u0000 Tuberculosis was one of the most devastating diseases to humanity in recent decades, although pulmonary infection is the most common, Infection of any other organ is familiar as well. Colon cancer is another disease affecting the GI system and mostly targets people over 50. Only few studies mentioned the co-existence of cancer and tuberculosis occurring at the same place and time. Hence, we report a rare case of concurrent ascending colon adenocarcinoma and colonic tuberculosis.\u0000 \u0000 \u0000 \u0000 A 49 -year-old man presented to our clinic with constipation and abdominal pain. Two colonoscopies were performed and two biopsies were taken, the first one showed granulomatous inflammation consistent with TB, the second one showed low grade adenocarcinoma. Computed tomography showed annular thickening of the ascending colon with infiltrates around the lesions. A right hemicolectomy was performed the final pathology confirmed adenocarcinoma grade II and extensive tuberculosis granulomas involving colon into the serosa and the lymph nodes. Anti-TB medications were administered after surgery.\u0000 \u0000 \u0000 \u0000 Due to appropriate diagnostic methods, TB and cancer were detected at an early stage. In our treatment protocol, no adjuvant chemotherapy was applied after surgery due to the possibility of drug interaction with Anti-TB medications.\u0000 \u0000 \u0000 \u0000 the two diseases may co-exist thus diagnosing them may not be the easiest, not to mention the lack of a clear treatment protocol in case of their accompany.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"57 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140230904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-19DOI: 10.1097/ms9.0000000000001963
D. Chataut, Shailendra Katwal, Sundar Suwal, Ajit Thapa, Bharosha Bhattarai
Angiodysplasia, a prevalent vascular anomaly in the gastrointestinal tract, often presents with upper gastrointestinal bleeding, sharing symptoms with gastric varices. The diagnostic challenge arises due to overlapping clinical features. This case report highlights the importance of considering angiodysplasia in the differential diagnosis, especially when variceal bleeding is less likely, and emphasizes the role of various diagnostic modalities in accurate identification. A 52-year-old male presented with severe hematemesis and melena, mimicking variceal bleeding. Despite initial management, bleeding persisted. Contrast-enhanced Computed Tomography revealed dilated vascular channels, raising suspicion for both gastric varices and angiodysplasia. Endoscopy confirmed an angiomatous lesion, inadvertently disrupted during the procedure, necessitating angiography. The angiographic findings supported the diagnosis of angiodysplasia, and successful interventions included temporary glue embolization and argon laser coagulation during endoscopy. The patient was discharged with stable hemoglobin; a two-year follow-up showed no recurrence. The case discusses the challenges in differentiating angiodysplasia from varices, emphasizing the role of imaging and endoscopic modalities. It highlights the need for a tailored approach to treatment, including argon plasma coagulation, and underscores the significance of meticulous follow-up for recurrence. This case report elucidates the diagnostic and therapeutic journey in managing a patient with angiodysplasia masquerading as variceal bleeding. It emphasizes the importance of considering vascular anomalies without typical signs and the significance of individualized interventions for optimal patient outcomes. The two-year follow-up without recurrence signifies the successful management of the case.
{"title":"Angiodysplasia simulating variceal bleeding: A challenging case report of diagnosis and intervention","authors":"D. Chataut, Shailendra Katwal, Sundar Suwal, Ajit Thapa, Bharosha Bhattarai","doi":"10.1097/ms9.0000000000001963","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001963","url":null,"abstract":"\u0000 \u0000 Angiodysplasia, a prevalent vascular anomaly in the gastrointestinal tract, often presents with upper gastrointestinal bleeding, sharing symptoms with gastric varices. The diagnostic challenge arises due to overlapping clinical features. This case report highlights the importance of considering angiodysplasia in the differential diagnosis, especially when variceal bleeding is less likely, and emphasizes the role of various diagnostic modalities in accurate identification.\u0000 \u0000 \u0000 \u0000 A 52-year-old male presented with severe hematemesis and melena, mimicking variceal bleeding. Despite initial management, bleeding persisted. Contrast-enhanced Computed Tomography revealed dilated vascular channels, raising suspicion for both gastric varices and angiodysplasia. Endoscopy confirmed an angiomatous lesion, inadvertently disrupted during the procedure, necessitating angiography. The angiographic findings supported the diagnosis of angiodysplasia, and successful interventions included temporary glue embolization and argon laser coagulation during endoscopy. The patient was discharged with stable hemoglobin; a two-year follow-up showed no recurrence.\u0000 \u0000 \u0000 \u0000 The case discusses the challenges in differentiating angiodysplasia from varices, emphasizing the role of imaging and endoscopic modalities. It highlights the need for a tailored approach to treatment, including argon plasma coagulation, and underscores the significance of meticulous follow-up for recurrence.\u0000 \u0000 \u0000 \u0000 This case report elucidates the diagnostic and therapeutic journey in managing a patient with angiodysplasia masquerading as variceal bleeding. It emphasizes the importance of considering vascular anomalies without typical signs and the significance of individualized interventions for optimal patient outcomes. The two-year follow-up without recurrence signifies the successful management of the case.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"50 s23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140230163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-19DOI: 10.1097/ms9.0000000000001976
T. Koento, F. Damara, M. Reksodiputro, Eka Dian Safitri, Raden Ayu Anatriera, D. Widodo, Dwi Juliana Dewi
The use of three-dimensional (3D) technology helps surgeons in performing autologous microtia reconstruction due to more accurate measurements and a better precision template model. However, the technical aspects of using a 3D imaging and 3D-printed model and the difference in outcomes postoperatively remain poorly reviewed. This systematic review aimed to provide the current evidence of the benefit and technical aspects of using 3D technology in autologous microtia reconstruction. Systematic literature search was conducted across multiple databases: Medline, Embase, Google Scholar, and Central until June 2022. Studies that evaluated the use of 3D imaging or 3D-printed model for autogenous microtia reconstruction were selected. The quality of the included studies was also assessed with respect to the study design. Systematic literature search yielded 17 articles with a combination of observational and case report studies. Overall, 3D imaging showed a precise measurement for pre-operative costal cartilage assessment. Compared to the 2D template, the utilization of a 3D-printed template provided a higher similarity rate relative to the unaffected ear, higher patient and surgeon satisfaction, and lower surgical time. Most 3D templates were fabricated using polylactic acid material on fused deposition modeling printers. The template costs were ranging from $1 to $4.5 depending on the material used. 3D imaging and 3D-printed template could improve the outcome of autologous microtia reconstruction. However, the quality of the existing evidence remains low due to the heterogeneity of the reported outcomes. Further studies with more adequate comparability and defined outcomes are still required.
{"title":"The utilization of 3D imaging and 3D-printed model in autologous microtia reconstruction","authors":"T. Koento, F. Damara, M. Reksodiputro, Eka Dian Safitri, Raden Ayu Anatriera, D. Widodo, Dwi Juliana Dewi","doi":"10.1097/ms9.0000000000001976","DOIUrl":"https://doi.org/10.1097/ms9.0000000000001976","url":null,"abstract":"\u0000 \u0000 The use of three-dimensional (3D) technology helps surgeons in performing autologous microtia reconstruction due to more accurate measurements and a better precision template model. However, the technical aspects of using a 3D imaging and 3D-printed model and the difference in outcomes postoperatively remain poorly reviewed.\u0000 \u0000 \u0000 \u0000 This systematic review aimed to provide the current evidence of the benefit and technical aspects of using 3D technology in autologous microtia reconstruction.\u0000 \u0000 \u0000 \u0000 Systematic literature search was conducted across multiple databases: Medline, Embase, Google Scholar, and Central until June 2022. Studies that evaluated the use of 3D imaging or 3D-printed model for autogenous microtia reconstruction were selected. The quality of the included studies was also assessed with respect to the study design.\u0000 \u0000 \u0000 \u0000 Systematic literature search yielded 17 articles with a combination of observational and case report studies. Overall, 3D imaging showed a precise measurement for pre-operative costal cartilage assessment. Compared to the 2D template, the utilization of a 3D-printed template provided a higher similarity rate relative to the unaffected ear, higher patient and surgeon satisfaction, and lower surgical time. Most 3D templates were fabricated using polylactic acid material on fused deposition modeling printers. The template costs were ranging from $1 to $4.5 depending on the material used.\u0000 \u0000 \u0000 \u0000 3D imaging and 3D-printed template could improve the outcome of autologous microtia reconstruction. However, the quality of the existing evidence remains low due to the heterogeneity of the reported outcomes. Further studies with more adequate comparability and defined outcomes are still required.\u0000","PeriodicalId":503882,"journal":{"name":"Annals of Medicine & Surgery","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140230767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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