Pub Date : 2022-07-22DOI: 10.33597/2771-4063-v2-id1009
D. Mg, Manoharan Gvmg, Lakshmi Kb
Congenital lip pits of the lower lip are rare developmental malformation with high penetrance, variable expressivity, and autosomal dominance. The cardinal signs in Van der Woude syndrome are congenital lower lip pits, cleft lip with or without cleft palate, and isolated cleft palate. Hypodontia is a cardinal feature that is associated with this syndrome. Ectodermal Dysplasia (ED) is a rare group of inherited disorders manifested with a defect in hair, skin, teeth, and eccrine glands. In ED there are defects in the development of tissues derived from primary embryonic ectodermal derivatives. Dry skin and sparse hair are common features seen in these patients. Partial or complete absence of teeth is reported in ectodermal dysplasia. This is a case report of an 18-year-old male with combined features of Van der Woude Syndrome (VWS) and Hypohidrotic Ectodermal Dysplasia (HED). The patient was surgically managed for the cleft lip at an early age.
先天性下唇凹陷是一种罕见的发育畸形,具有高外显率、可变表达性和常染色体显性。Van der Woude综合征的主要征象是先天性下唇凹陷、唇裂伴或不伴腭裂和孤立性腭裂。下颌缺失是与该综合征相关的主要特征。外胚层发育不良(ED)是一种罕见的遗传性疾病,表现为头发、皮肤、牙齿和汗腺的缺陷。在ED中,原胚外胚层衍生物衍生的组织发育存在缺陷。皮肤干燥和头发稀疏是这些患者的共同特征。据报道,外胚层发育不良患者牙齿部分或完全缺失。这是一个18岁的男性病例报告,合并了Van der Woude综合征(VWS)和少汗性外胚层发育不良(HED)的特征。这个病人在很小的时候就接受了手术治疗唇裂。
{"title":"Van Der Woude Syndrome with Ectodermal Dysplasia- Case Report","authors":"D. Mg, Manoharan Gvmg, Lakshmi Kb","doi":"10.33597/2771-4063-v2-id1009","DOIUrl":"https://doi.org/10.33597/2771-4063-v2-id1009","url":null,"abstract":"Congenital lip pits of the lower lip are rare developmental malformation with high penetrance, variable expressivity, and autosomal dominance. The cardinal signs in Van der Woude syndrome are congenital lower lip pits, cleft lip with or without cleft palate, and isolated cleft palate. Hypodontia is a cardinal feature that is associated with this syndrome. Ectodermal Dysplasia (ED) is a rare group of inherited disorders manifested with a defect in hair, skin, teeth, and eccrine glands. In ED there are defects in the development of tissues derived from primary embryonic ectodermal derivatives. Dry skin and sparse hair are common features seen in these patients. Partial or complete absence of teeth is reported in ectodermal dysplasia. This is a case report of an 18-year-old male with combined features of Van der Woude Syndrome (VWS) and Hypohidrotic Ectodermal Dysplasia (HED). The patient was surgically managed for the cleft lip at an early age.","PeriodicalId":187008,"journal":{"name":"American Journal of Clinical and Medical Case Reports","volume":"41 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115814644","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 : 2022-06-20DOI: 10.33597/ajcmcr-v2-id1007
M. Khare
Diabetes mellitus is a metabolic disease characterized by chronic hyperglycemia resulting from deficiency of insulin. Among platelet indices, Mean Platelet Volume (MPV) demonstrates the changes in rate of platelet production. Increase in MPV is seen in metabolic syndrome, stroke and diabetes. In these 100 diabetics and 100 control subjects were taken and their HbA1c was correlated with the MPV level of these subjects. A significant correlation was found between the MPV and Hba1c levels. Hence raised MPV levels can be used as an early indicator for the complications of diabetes.
{"title":"Role of MPV in Early Diagnosis of Vascular Complication in Diabetic Patient","authors":"M. Khare","doi":"10.33597/ajcmcr-v2-id1007","DOIUrl":"https://doi.org/10.33597/ajcmcr-v2-id1007","url":null,"abstract":"Diabetes mellitus is a metabolic disease characterized by chronic hyperglycemia resulting from deficiency of insulin. Among platelet indices, Mean Platelet Volume (MPV) demonstrates the changes in rate of platelet production. Increase in MPV is seen in metabolic syndrome, stroke and diabetes. In these 100 diabetics and 100 control subjects were taken and their HbA1c was correlated with the MPV level of these subjects. A significant correlation was found between the MPV and Hba1c levels. Hence raised MPV levels can be used as an early indicator for the complications of diabetes.","PeriodicalId":187008,"journal":{"name":"American Journal of Clinical and Medical Case Reports","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134269258","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 : 2021-12-20DOI: 10.33597/ajcmcr-v1-id1006
A. Al-Ansari, Maged Alrayashi, H. Kamkoum, Hossameldin Alnawsara, Bela Tallai, Tawiz Gul, Shukri Alfalahi, Mohamed Abdelka-reem, M. Ebrahim, Fathi Al Kadhi, Farhat Ali, A. Ismail, Ibrahim Alnadhari, O. Aboumarzouk, M. Salah
Flexible Ureteroscopy (FURS) has become an integral aspect of the surgical armamentarium to treat intra-renal stones that are less than 2 cm in diameter. Despite the progress made with regards to the design of the flexible ureteroscopes, surgeons still need to work with suboptimal ergonomics, which may result in orthopedic complaints, which as a result lead to imperfect performance. Robotic- Assisted FURS with Avicenna Roboflex has provided significant improvement of ergonomics. The Super Pulse Thulium Fiber Laser (SPTFL) may be considered as a viable alternative to holmium laser in stone management. Coronavirus Disease- 19 (Covid-19) has been declared as a pandemic by the World Health Organization (WHO) on March 11, 2020. As a result, many hospitals have been converted to dedicated facilities to manage the Covid-19 patients. Urinary stone disease represents a benign condition, but in non-negligible number of cases, it can lead to potential severe septic complications that could increase the burden on emergency services. Many surgical specialties including urology has made short pathways for patient flow to decrease the contact with the patients which in turn will decrease the possibility of transmission of Covid-19. The use of new technologies such as Avicenna Roboflex and thulium fiber laser in Covid-19 positive patients when performing flexible ureteroscopy can minimize direct contact with the patient, expedite the procedure, while protecting the staff from getting Covid-19 infection.
{"title":"Robotic Assisted Flexible Ureteroscopy in Covid-19 Positive Patient Using Thulium Fiber Laser: Case Report and Literature Review","authors":"A. Al-Ansari, Maged Alrayashi, H. Kamkoum, Hossameldin Alnawsara, Bela Tallai, Tawiz Gul, Shukri Alfalahi, Mohamed Abdelka-reem, M. Ebrahim, Fathi Al Kadhi, Farhat Ali, A. Ismail, Ibrahim Alnadhari, O. Aboumarzouk, M. Salah","doi":"10.33597/ajcmcr-v1-id1006","DOIUrl":"https://doi.org/10.33597/ajcmcr-v1-id1006","url":null,"abstract":"Flexible Ureteroscopy (FURS) has become an integral aspect of the surgical armamentarium to treat intra-renal stones that are less than 2 cm in diameter. Despite the progress made with regards to the design of the flexible ureteroscopes, surgeons still need to work with suboptimal ergonomics, which may result in orthopedic complaints, which as a result lead to imperfect performance. Robotic- Assisted FURS with Avicenna Roboflex has provided significant improvement of ergonomics. The Super Pulse Thulium Fiber Laser (SPTFL) may be considered as a viable alternative to holmium laser in stone management. Coronavirus Disease- 19 (Covid-19) has been declared as a pandemic by the World Health Organization (WHO) on March 11, 2020. As a result, many hospitals have been converted to dedicated facilities to manage the Covid-19 patients. Urinary stone disease represents a benign condition, but in non-negligible number of cases, it can lead to potential severe septic complications that could increase the burden on emergency services. Many surgical specialties including urology has made short pathways for patient flow to decrease the contact with the patients which in turn will decrease the possibility of transmission of Covid-19. The use of new technologies such as Avicenna Roboflex and thulium fiber laser in Covid-19 positive patients when performing flexible ureteroscopy can minimize direct contact with the patient, expedite the procedure, while protecting the staff from getting Covid-19 infection.","PeriodicalId":187008,"journal":{"name":"American Journal of Clinical and Medical Case Reports","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131150993","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}