Pub Date : 2022-10-30DOI: 10.47363/jccsr/2022(4)233
Elakiya Manopriya
{"title":"Coarctation of AORTA – A Case History","authors":"Elakiya Manopriya","doi":"10.47363/jccsr/2022(4)233","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)233","url":null,"abstract":"","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"370 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131615934","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 : 2022-09-30DOI: 10.47363/jccsr/2022(4)229
Mohamed El Hafed Radhi
Second branchial cleft cysts are the most common type of branchial cleft cysts as they make up approximately 95% of all cases. These are congenital conditions that occur in the upper lateral neck just anterior to the sternocleidomastoid muscle and caused by fluids filling spaces during early embryonic development. We present a case of atypical presentation of second branchial cleft cysts in 40 year’s patient, A surgical intervention was performed with complete excision of the cysts. Many of branchial cleft cysts would go unnoticed. However, upper respiratory tract infection can cause a sudden and significant increase in the size of the cyst because of the lymphoid tissue beneath the epithelium, The Differential diagnosis would include lymphadenopathy, lipoma, nerve sheath tumor, inflammatory lesions, carotid body tumor, external laryngocele, cystic hygroma, metastatic squamous cell carcinoma, tuberculosis-related, HIV-related lymphadenopathy, sarcoidosis, cat-scratch disease, lymphoma, and papillary thyroid carcinoma metastasis. Surgical excision is the only known treatment for second branchial cleft cysts; moreover, a complete removal of second bronchial cyst cleft is of paramount importance since it is key to preventing any recurrence of the disease.
{"title":"A Rare Presentation of Second Branchial Cleft Cysts in Adult Patient: Case Report with Literature Review","authors":"Mohamed El Hafed Radhi","doi":"10.47363/jccsr/2022(4)229","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)229","url":null,"abstract":"Second branchial cleft cysts are the most common type of branchial cleft cysts as they make up approximately 95% of all cases. These are congenital conditions that occur in the upper lateral neck just anterior to the sternocleidomastoid muscle and caused by fluids filling spaces during early embryonic development. We present a case of atypical presentation of second branchial cleft cysts in 40 year’s patient, A surgical intervention was performed with complete excision of the cysts. Many of branchial cleft cysts would go unnoticed. However, upper respiratory tract infection can cause a sudden and significant increase in the size of the cyst because of the lymphoid tissue beneath the epithelium, The Differential diagnosis would include lymphadenopathy, lipoma, nerve sheath tumor, inflammatory lesions, carotid body tumor, external laryngocele, cystic hygroma, metastatic squamous cell carcinoma, tuberculosis-related, HIV-related lymphadenopathy, sarcoidosis, cat-scratch disease, lymphoma, and papillary thyroid carcinoma metastasis. Surgical excision is the only known treatment for second branchial cleft cysts; moreover, a complete removal of second bronchial cyst cleft is of paramount importance since it is key to preventing any recurrence of the disease.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125952572","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 : 2022-09-30DOI: 10.47363/jccsr/2022(4)230
Said el Deib
Functional gastrointestinal disorders (FGIDs) such as infantile colic, constipation and colic occur in almost half of the infants. Functional gastrointestinal disorders (FGID) are common among children and may cause a significant symptom burden. The Rome criteria are symptom-based guidelines for the assessment of FGID among children and adults. The most common FGID for children aged 0–12 months was infant regurgitation, the most common FGID for those aged 13–48 months were functional constipation and cyclic vomiting, and, for those aged over four years, functional constipation, functional dyspepsia, and irritable bowel syndrome. This reported overall incidence of FGID may be used as a benchmark of normative data among the general population and comparative data for those with comorbid disease. The aim of this mini review article is to provide a critical and updated review on the management of FGIDs and their impact on the health of the infant and family to health care physicians. Guidelines and expert recommendations were reviewed. FGIDs are a frequent cause of parental concern, impairment in quality of life of infants and relatives, and impose a financial burden to families, health care, and insurance. Therefore, primary management of the FGIDs should be focused on improving the infants’ symptoms and quality of life of the family. If more than parental reassurance is needed, available evidence recommends nutritional advice as it is an effective strategy and most of the time devoid of adverse effects. The role of healthcare providers in reassuring parents and proposing the correct behavior and nutritional intervention by avoiding inappropriate use of medication, is essential in the management of FGIDs.
{"title":"Impact of Functional Gastrointestinal Disorders in Infancy and the Role of Nutrition","authors":"Said el Deib","doi":"10.47363/jccsr/2022(4)230","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)230","url":null,"abstract":"Functional gastrointestinal disorders (FGIDs) such as infantile colic, constipation and colic occur in almost half of the infants. Functional gastrointestinal disorders (FGID) are common among children and may cause a significant symptom burden. The Rome criteria are symptom-based guidelines for the assessment of FGID among children and adults. The most common FGID for children aged 0–12 months was infant regurgitation, the most common FGID for those aged 13–48 months were functional constipation and cyclic vomiting, and, for those aged over four years, functional constipation, functional dyspepsia, and irritable bowel syndrome. This reported overall incidence of FGID may be used as a benchmark of normative data among the general population and comparative data for those with comorbid disease. The aim of this mini review article is to provide a critical and updated review on the management of FGIDs and their impact on the health of the infant and family to health care physicians. Guidelines and expert recommendations were reviewed. FGIDs are a frequent cause of parental concern, impairment in quality of life of infants and relatives, and impose a financial burden to families, health care, and insurance. Therefore, primary management of the FGIDs should be focused on improving the infants’ symptoms and quality of life of the family. If more than parental reassurance is needed, available evidence recommends nutritional advice as it is an effective strategy and most of the time devoid of adverse effects. The role of healthcare providers in reassuring parents and proposing the correct behavior and nutritional intervention by avoiding inappropriate use of medication, is essential in the management of FGIDs.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"129 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127388227","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 : 2022-07-31DOI: 10.47363/jccsr/2022(4)224
M. Hossain
Acute pancreatitis causes devastating changes in body involves organ dysfunction, metabolic imbalance, electrolyte disturbance as well as acid base disorder. Pancreatic necrosis complicates the condition. Patient may develops systemic inflammatory response syndrome (SIRS) followed by sepsis. Laparotomy and removal of necrotic part along with peritoneal toileting is the surgical management. We present a case of a 45 years old male admitted with a diagnosis of pancreatic necrosis is scheduled for exploratory laparotomy followed by peritoneal toileting along with excision of necrotic portion. Maintaining a smooth anesthesia is a challenge during surgery. Disease and its complications along with surgery produce extreme condition for anesthesiologist. Patient sometimes response badly therefore may need postoperative intensive care support. Meticulous fluid administration, inotrope support, choice of proper intraoperative drugs, monitoring vital signs including urine output, blood gas analysis- these should be focused during anaesthesia
{"title":"A Case Study on Anaesthesia of a Patient with Pancreatic Necrosis in Bangladesh","authors":"M. Hossain","doi":"10.47363/jccsr/2022(4)224","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)224","url":null,"abstract":"Acute pancreatitis causes devastating changes in body involves organ dysfunction, metabolic imbalance, electrolyte disturbance as well as acid base disorder. Pancreatic necrosis complicates the condition. Patient may develops systemic inflammatory response syndrome (SIRS) followed by sepsis. Laparotomy and removal of necrotic part along with peritoneal toileting is the surgical management. We present a case of a 45 years old male admitted with a diagnosis of pancreatic necrosis is scheduled for exploratory laparotomy followed by peritoneal toileting along with excision of necrotic portion. Maintaining a smooth anesthesia is a challenge during surgery. Disease and its complications along with surgery produce extreme condition for anesthesiologist. Patient sometimes response badly therefore may need postoperative intensive care support. Meticulous fluid administration, inotrope support, choice of proper intraoperative drugs, monitoring vital signs including urine output, blood gas analysis- these should be focused during anaesthesia","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133253825","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 : 2022-07-30DOI: 10.47363/jccsr/2022(4)225
M. Tyurin
The Author has performed the partial body fat removal in the volunteer who has tendency to increase the body weight. The Author investigated the problem of food fat digestion on rabbits and successfully used it for the design and use of the proprietary fat removal column. The observations of the fat transport in the rabbit blood had brought the Author to understanding that the intestine is a wide and open gate for the recombinant proteins, if inhabit the intestine with the genetically engineered members of the normal human intestinal; microflora. It is paramount to do the genetic engineering of the component of the human normal intestinal microflora for about 200 hours, not longer, as otherwise long cultivated in vitro the engineered microorganisms do not adhere to the intestinal cells of the host thus making the whole procedure the waste of the very well paid time (patient/ health insurance pays). The Author has designed the procedure to cure the Diabetes II and anemia in another volunteer. The success determined the need for the look in the future, when the overcrowded Earth population might start relocating to other planets: vaccines for the relocating people.
{"title":"The use of Human Intestine to Deliver Recombinant Proteins Which Macroorganism Needs","authors":"M. Tyurin","doi":"10.47363/jccsr/2022(4)225","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)225","url":null,"abstract":"The Author has performed the partial body fat removal in the volunteer who has tendency to increase the body weight. The Author investigated the problem of food fat digestion on rabbits and successfully used it for the design and use of the proprietary fat removal column. The observations of the fat transport in the rabbit blood had brought the Author to understanding that the intestine is a wide and open gate for the recombinant proteins, if inhabit the intestine with the genetically engineered members of the normal human intestinal; microflora. It is paramount to do the genetic engineering of the component of the human normal intestinal microflora for about 200 hours, not longer, as otherwise long cultivated in vitro the engineered microorganisms do not adhere to the intestinal cells of the host thus making the whole procedure the waste of the very well paid time (patient/ health insurance pays). The Author has designed the procedure to cure the Diabetes II and anemia in another volunteer. The success determined the need for the look in the future, when the overcrowded Earth population might start relocating to other planets: vaccines for the relocating people.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132217354","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 : 2022-06-30DOI: 10.47363/jccsr/2022(4)222
D. Stasinopoulos
The purpose of the case study was to find out the effect of a supervised exercise program combined with Transverse Friction (TF) and Mulligan Mobilization With Movement (MMWM) on disability and pain in a patient experiencing chronic Lateral Elbow tendinopathy (LET). A patient with unilateral LET for 6 months was included in the present study. The patient followed the exercise program five times per week for 4 weeks. The programme was individualized on the basis of the patient’s description of pain experienced during the procedure. TF and MMWM were applied 3 times per weeks for 4 weeks, 12 sessions totally. Outcome measures were function using the Patient-Rated Tennis Elbow Evaluation, a visual analogue scale and the pain-free grip strength and pain using a visual analogue scale. The patient was evaluated at baseline (week 0), at week 4 (end of treatment), at week 8 (1 month after the end of the treatment) and at week 32 (six months after the end of treatment). At the end of the treatment and at the follow – up there was a rise in function and a decline in pain. The findings of the case report suggest that a physiotherapy approach as described in the present case report can produce significant improvements in terms of disability and pain in a patient with chronic LET
{"title":"A Progressive Loading Supervised Exercise Program and Manual Therapy for The Management of Lateral Elbow Tendinopathy: A Case Report","authors":"D. Stasinopoulos","doi":"10.47363/jccsr/2022(4)222","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)222","url":null,"abstract":"The purpose of the case study was to find out the effect of a supervised exercise program combined with Transverse Friction (TF) and Mulligan Mobilization With Movement (MMWM) on disability and pain in a patient experiencing chronic Lateral Elbow tendinopathy (LET). A patient with unilateral LET for 6 months was included in the present study. The patient followed the exercise program five times per week for 4 weeks. The programme was individualized on the basis of the patient’s description of pain experienced during the procedure. TF and MMWM were applied 3 times per weeks for 4 weeks, 12 sessions totally. Outcome measures were function using the Patient-Rated Tennis Elbow Evaluation, a visual analogue scale and the pain-free grip strength and pain using a visual analogue scale. The patient was evaluated at baseline (week 0), at week 4 (end of treatment), at week 8 (1 month after the end of the treatment) and at week 32 (six months after the end of treatment). At the end of the treatment and at the follow – up there was a rise in function and a decline in pain. The findings of the case report suggest that a physiotherapy approach as described in the present case report can produce significant improvements in terms of disability and pain in a patient with chronic LET","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131001217","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 : 2022-06-30DOI: 10.47363/jccsr/2022(4)223
Sylvain Nainanirina
BRASH syndrome is a rare entity that is often underdiagnosed. Recently known in 2016, it falls within the scope of drug toxicity. BRASH syndrome consists of bradycardia, renal failure, shock, and hyperkalemia, secondary to atrioventricular node blocking drugs. We report two cases of BRASH syndrome in order to encourage the physician to think about it in front of bradycardia associated with hyperkalemia in chronic renal patients and to intensify the monitoring of renal insufficiency under atrio-ventricular node blocker. The first case was a 59-year-old man, hypertensive-diabetic, suffering from a stage IV chronic renal disease not dialyzed, having taken as antihypertensive drugs: Carvedilol 12.5 mg and Amlodipine 10 mg, presenting a picture of BRASH syndrome triggered by the intake of diuretic. The second case was a 64-year-old hypertensive-diabetic man, presenting a mixed vascular and diabetic nephropathy stage V not dialyzed, under Carvedilol 12,5 mg and Amlodipine 10 mg making a picture of shock and severe bradycardia with aggravation of a hyperkalemia labeled as BRASH syndrome on bacterial pneumonia.
{"title":"Two Cases of BRASH Syndrome","authors":"Sylvain Nainanirina","doi":"10.47363/jccsr/2022(4)223","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)223","url":null,"abstract":"BRASH syndrome is a rare entity that is often underdiagnosed. Recently known in 2016, it falls within the scope of drug toxicity. BRASH syndrome consists of bradycardia, renal failure, shock, and hyperkalemia, secondary to atrioventricular node blocking drugs. We report two cases of BRASH syndrome in order to encourage the physician to think about it in front of bradycardia associated with hyperkalemia in chronic renal patients and to intensify the monitoring of renal insufficiency under atrio-ventricular node blocker. The first case was a 59-year-old man, hypertensive-diabetic, suffering from a stage IV chronic renal disease not dialyzed, having taken as antihypertensive drugs: Carvedilol 12.5 mg and Amlodipine 10 mg, presenting a picture of BRASH syndrome triggered by the intake of diuretic. The second case was a 64-year-old hypertensive-diabetic man, presenting a mixed vascular and diabetic nephropathy stage V not dialyzed, under Carvedilol 12,5 mg and Amlodipine 10 mg making a picture of shock and severe bradycardia with aggravation of a hyperkalemia labeled as BRASH syndrome on bacterial pneumonia.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114717185","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 : 2022-05-31DOI: 10.47363/jccsr/2022(4)217
Bobby Tang
Purpose: Non-attendance for healthcare appointments can adversely affect patients’ clinical outcomes as well as being costly to healthcare systems. The aim of this study is to assess the role of mobile health (mHealth) interventions in tackling this problem. Methods: A systematic review was conducted on several databases including the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase and PubMed. Overall 12 articles were selected for the review. A random effects model was used to estimate an overall effect size. Results: SMS reminders significantly decreased the rate of non-attendance compared to no reminders (Risk ratio [RR] 0.77; 95% Confidence Interval [CI] 0.71, 0.84) with moderate heterogeneity (I2=32%) between studies. A funnel plot indicated no evidence of reporting bias. Conclusions: SMS reminders significantly improve healthcare attendance rates across a wide range of clinical and socioeconomic settings. Utilization of SMS reminders are a cheap and effective method of improving patient attendance rates.
目的:不参加医疗保健预约会对患者的临床结果产生不利影响，同时也会给医疗保健系统带来高昂的成本。本研究的目的是评估移动医疗(mHealth)干预措施在解决这一问题中的作用。方法:对Cochrane Central Register of Controlled Trials (Central)、MEDLINE、Embase和PubMed等数据库进行系统评价。总共选择了12篇文章进行综述。随机效应模型用于估计总体效应大小。结果:与没有提醒相比，短信提醒显著降低了缺勤率(风险比[RR] 0.77;95%可信区间[CI] 0.71, 0.84)，研究间存在中等异质性(I2=32%)。漏斗图显示没有报告偏倚的证据。结论:短信提醒显着提高医疗出勤率在广泛的临床和社会经济环境。利用短信提醒是一种廉价而有效的提高病人出勤率的方法。
{"title":"Effect of SMS reminders on Attendance Rates for Healthcare Appointments: A Systematic Review & Meta-Analysis","authors":"Bobby Tang","doi":"10.47363/jccsr/2022(4)217","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)217","url":null,"abstract":"Purpose: Non-attendance for healthcare appointments can adversely affect patients’ clinical outcomes as well as being costly to healthcare systems. The aim of this study is to assess the role of mobile health (mHealth) interventions in tackling this problem. Methods: A systematic review was conducted on several databases including the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase and PubMed. Overall 12 articles were selected for the review. A random effects model was used to estimate an overall effect size. Results: SMS reminders significantly decreased the rate of non-attendance compared to no reminders (Risk ratio [RR] 0.77; 95% Confidence Interval [CI] 0.71, 0.84) with moderate heterogeneity (I2=32%) between studies. A funnel plot indicated no evidence of reporting bias. Conclusions: SMS reminders significantly improve healthcare attendance rates across a wide range of clinical and socioeconomic settings. Utilization of SMS reminders are a cheap and effective method of improving patient attendance rates.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"88 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127181161","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 : 2022-05-31DOI: 10.47363/jccsr/2022(4)218
Elise Taieb
Pterygium occurs mostly on the nasal side, which can be attributed to light coming to the temporal cornea and being focused on the nasal Cornea [4]. Double head pterygium or Kissing pterygium , that is, nasal and temporal pterygia in the same eye is rare. Through this case, we present the case of a kissing pterygium which is a rare situation, and the importance of early diagnosis and care to avoid loss of visual acuity.
{"title":"Kissing Pterygium : when the Delay in Diagnosis Leads to a Tragic Ending","authors":"Elise Taieb","doi":"10.47363/jccsr/2022(4)218","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)218","url":null,"abstract":"Pterygium occurs mostly on the nasal side, which can be attributed to light coming to the temporal cornea and being focused on the nasal Cornea [4]. Double head pterygium or Kissing pterygium , that is, nasal and temporal pterygia in the same eye is rare. Through this case, we present the case of a kissing pterygium which is a rare situation, and the importance of early diagnosis and care to avoid loss of visual acuity.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121835995","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 : 2022-04-30DOI: 10.47363/jccsr/2022(4)213
Dr. Jasmin Ahmad
Purpose: To report three cases of a rare inherited familial disorder of Bardet-Biedl Syndrome (BBS). Study Design: Observational case report. Method: Two out of eight siblings presented in their second decade of life with dimness of vision in both eyes since birth. The third one is the only person of the family presented also in second decade of life with gradual blurring of vision in both eyes and outward deviation of left eye. Detail clinical history was taken. Physical, anthropometric, ophthalmic, psychological examination was done and appropriate clinical investigations were performed to exclude other systemic disorder. Review of recent literatures was done. Result: First two cases were brothers, who were mentally retarded child with delayed developmental mile stone. They were short, obese and had polydactyly, gynecomastia, hypogonadism. Their vision was poor and had retinitis pigmentosa with optic atrophy. The third one was also mentally retarded and had polydactyly, trunkal obesity, atypical retinitis pigmantosa with optic atrophy. They did not had deafness or any systemic abnormalities. Depending on clinical findings they were diagnosed as a case of BBS.
{"title":"Bardet Biedl Syndrome-Report of three Cases and Review of Recent Articles","authors":"Dr. Jasmin Ahmad","doi":"10.47363/jccsr/2022(4)213","DOIUrl":"https://doi.org/10.47363/jccsr/2022(4)213","url":null,"abstract":"Purpose: To report three cases of a rare inherited familial disorder of Bardet-Biedl Syndrome (BBS). Study Design: Observational case report. Method: Two out of eight siblings presented in their second decade of life with dimness of vision in both eyes since birth. The third one is the only person of the family presented also in second decade of life with gradual blurring of vision in both eyes and outward deviation of left eye. Detail clinical history was taken. Physical, anthropometric, ophthalmic, psychological examination was done and appropriate clinical investigations were performed to exclude other systemic disorder. Review of recent literatures was done. Result: First two cases were brothers, who were mentally retarded child with delayed developmental mile stone. They were short, obese and had polydactyly, gynecomastia, hypogonadism. Their vision was poor and had retinitis pigmentosa with optic atrophy. The third one was also mentally retarded and had polydactyly, trunkal obesity, atypical retinitis pigmantosa with optic atrophy. They did not had deafness or any systemic abnormalities. Depending on clinical findings they were diagnosed as a case of BBS.","PeriodicalId":274729,"journal":{"name":"Journal of Clinical Case Studies Reviews & Reports","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130002588","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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