Alstrom's Syndrome: An Experience of Tertiary Care Center

2021 ◽  
Author(s):  
Ghadah Gosadi ◽  
Maryam Busehail ◽  
Zuhair Rahbeeni
Keyword(s):  
Biochemical Markers ◽  
Founder Mutation ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Research Centre ◽  
Poor Vision ◽  
Pathogenic Variants ◽  
Saudi Patients

AbstractAlstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic variants in ALMS1 gene cause AS. Retrospective study (1990–2017) included 12 Saudi patients with AS based on their phenotype, biochemical markers, and genotype. The study was approved by Fisal Specialist Hospital and Research Centre, Riyadh (RAC number 2131129) on October 2, 2012. This study showed clinical and genetic heterogeneity; six patients showed a founder mutation (IVS18–2A > T in exon 19), whereas six others showed private mutations. AS in Saudi Arabia is underdiagnosed probably because of its variable clinical manifestations. We report 12 Saudi patients with AS to enhance the awareness about this syndrome.

Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center

2020 ◽  
Author(s):  
Sinan Holdar ◽  
Zuhair Rahbeeni ◽  
Khushnooda Ramzan ◽  
Faiqa Imtiaz
Keyword(s):  
Coenzyme A ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Research Centre ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Laboratory Findings ◽  
Saudi Patients

Abstract3-Hydroxy-3-methylglutaryl-coenzyme-A lyase (HMGCL) deficiency, a rare autosomal recessive disorder, is caused by a homozygous or compound heterozygous mutation in the HMGCL gene (chromosome 1p36.11). HMGCL catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Several studies have reported general hepatic findings (e.g., hepatomegaly) in patients with HMGCL deficiency, but currently, there are no available data regarding the incidence and epidemiology of liver involvement. The main objective of our study was to investigate the overall clinical manifestations, laboratory findings, genotype, and presence of hepatic involvement in Saudi patients with HMGCL deficiency. A retrospective chart review of patients with HMGCL deficiency including those with a documented hepatic manifestation was performed at the King Faisal Specialist Hospital & Research Centre in Riyadh, Saudi Arabia. We evaluated 50 cases of HMGCL deficiency. Hepatic findings were found in 17 patients at the time of diagnosis. The mean age of hepatic presentation was 135 days, and the median age was 56 days (range: 2–315 days). Hepatomegaly was found in 65%, abnormal biochemical profile in 47%, and an abnormal imaging in 53% of patients. The most frequent mutation in this cohort was the p.Arg41Gln founder mutation (59%). In comparison to data from the current literature, HMGCL deficiency can be considered as a diagnostic metabolite for hepatic manifestations and requires appropriate evaluation, including molecular genetic analysis.

scholarly journals Cardiac involvement in patients of dengue fever in reference to ECG and Echocardiography – A tertiary care center study

2020 ◽  
Vol 8 (6) ◽  
pp. 392-397
Author(s):  
Dr. Nitesh Sukhwani ◽  
◽  
Dr. Rohit Chhari ◽  
Keyword(s):  
Cardiac Involvement ◽  
Clinical Symptoms ◽  
Care Center ◽  
Tertiary Care ◽  
Total Duration ◽  
Clinical Manifestations ◽  
General Medicine ◽  
Research Centre ◽  
Metabolic Derangement ◽  
Multiple Organs

Introduction: Dengue rarely affects the heart but clinical symptoms of cardiac involvement mayrange greatly from silent illness to severe myocarditis resulting in death. Clinical features areasymptomatic and most are transient among patients with DF/DHF. Material and methods: It wasan observational study conducted at the Department of General Medicine, Peoples College of MedicalSciences and Research Centre, Bhopal. The total duration of the study was One and a half yearsfrom Dec 2018 to May 2020. All dengue patients presenting to People’s Hospital during one and halfyears from which data was collected using as per given proforma. Results: In the present studygroup of 58 patients, it was found that 49 patients (84.5%) have not shown any cardiacabnormalities and 9 patients have abnormal values (15.5%) but are not significant. It is also foundthat the incidence of cardiac manifestations was more common in DHF and dengue shock syndromewhich was 15.5% and 3.4%, respectively. Conclusion: Clinical manifestations of cardiacinvolvement can vary widely from silent disease to severe myocarditis resulting in death. Rhythmabnormalities, hypotension, arrhythmias, myocarditis, myocardial depression with symptoms ofheart failure and shock, and pericarditis have been reported. Involvement of multiple organs, as wellas the presence of metabolic derangement, can further confuse the picture.

scholarly journals Deep Cerebral Venous Thrombosis—A Clinicoradiological Study

2021 ◽  
Author(s):  
Sujana Gogineni ◽  
Dhananjay Gupta ◽  
R. Pradeep ◽  
Anish Mehta ◽  
Mahendra Javali ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Arterial Occlusion ◽  
Venous System ◽  
Common Risk Factor ◽  
Imaging Characteristics ◽  
Deep Cerebral Venous Thrombosis ◽  
High Index Of Suspicion

AbstractStroke is a common neurological emergency. Almost 80% of strokes are due to arterial occlusion. Venous thrombosis comprises less than 1–2% of all strokes. Involvement of the deep cerebral venous system is still rare and accounts for about 10.9% of all cerebral venous thromboses (CVT). CVT diagnosis is often delayed or missed, because of its variable clinical manifestations. We retrospectively (2015–18) and prospectively (2018–20) reviewed all the cases of CVT in a tertiary care center in south India. Out of a total of 52 CVT cases, 12 were due to the involvement of deep cerebral venous system. Their clinical presentation, imaging characteristics, and outcomes were assessed. The most frequent presentation was headache followed by seizures. Hyperhomocysteinemia was the most common risk factor noted. Imaging characteristics were variable, and a high index of suspicion was required for early diagnosis. All patients had favorable outcome in our study, and except one, all were treated conservatively.

scholarly journals Frequency and clinical manifestations of post-poliomyelitis syndrome in a brazilian tertiary care center

2012 ◽  
Vol 70 (8) ◽  
pp. 571-573 ◽  
Author(s):  
Abrahão Augusto Juviniano Quadros ◽  
Mônica Tilli Reis Pessoa Conde ◽  
Luis Fabiano Marin ◽  
Helga Cristina Almeida Silva ◽  
Tatiana Mesquita e Silva ◽  
...  
Keyword(s):  
Joint Pain ◽  
Care Center ◽  
Neuromuscular Disorders ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Paralytic Poliomyelitis ◽  
Prior History ◽  
Cold Intolerance ◽  
Infection Age ◽  
History Of

OBJECTIVE: To determine the frequency and clinical manifestations of patients with post-poliomyelitis syndrome (PPS) in a Brazilian division of neuromuscular disorders. METHODS: A total of 167 patients with prior history of paralytic poliomyelitis was investigated for PPS, based on international diagnostic criteria. Other variables analyzed were: gender, race, age at poliomyelitis infection, age at PPS onset, and PPS symptoms. RESULTS: One hundred and twenty-nine patients presented PPS, corresponding to 77.2% of the studied population. 62.8% were women and 37.2% were men. Mean age of patients with PPS at onset of PPS symptoms was 39.9±9.69 years. Their main clinical manifestations were: new weakness in the previously affected limbs (69%) and in the apparently not affected limbs (31%); joint pain (79.8%); fatigue (77.5%); muscle pain (76%); and cold intolerance (69.8%). CONCLUSIONS: Most patients of our sample presented PPS. In Brazil, PPS frequency and clinical features are quite similar to those of other countries.

scholarly journals Juvenile dermatomyositis in Thai children: Retrospective review of 30 cases from a tertiary care center

2021 ◽  
Vol 0 ◽  
pp. 1-9
Author(s):  
Rattanavalai Nitiyarom ◽  
Sirirat Charuvanij ◽  
Surachai Likasitwattanakul ◽  
Chaiwat Thanoophunchai ◽  
Wanee Wisuthsarewong
Keyword(s):  
Juvenile Dermatomyositis ◽  
Care Center ◽  
Tertiary Care ◽  
Inflammatory Myopathy ◽  
Clinical Manifestations ◽  
Multicenter Studies ◽  
Extraskeletal Osteosarcoma ◽  
Calcinosis Cutis ◽  
Tertiary Referral Center ◽  
Presenting Symptoms

Background: Juvenile dermatomyositis is a rare condition, but it is the most common idiopathic inflammatory myopathy in pediatric patients. Aim: To study the clinical manifestations, investigations, treatment, clinical course, and outcomes of juvenile dermatomyositis in Thai children. Method: This retrospective study included juvenile dermatomyositis patients treated at Siriraj Hospital, a 2,300-bed national tertiary referral center in Bangkok, Thailand, from 1994 to 2019. Results: Thirty patients (22 females and 8 males) were included with a female to male ratio of 2.7:1. Median age at diagnosis was 5.1 years (range, 2.6-14.8 years). Median duration of illness before diagnosis was 6.5 months (range, 0.3-84.0 months). Acute and subacute onset occurred in the majority of patients. Presenting symptoms included muscle weakness in 27/30 (90%), skin rash in 26/30 (86.7%), muscle pain in 17/26 (65.4%), and arthralgia in 4/18 (22.2%) of patients. Dermatologic examination revealed Gottron’s rash, heliotrope rash, and periungual telangiectasia in 25/30 (83.3%), 21/30 (70.0%), and 15/24 (62.5%) of patients, respectively. Interestingly, scalp dermatitis was found in 8/21 (38.1%) of patients. The most commonly used treatment regimen in this series was a combination of prednisolone and methotrexate. During the median follow-up of 3.1 years (range, 0.0-18.5 years), only one-third of patients were seen to have monocyclic disease. Extraskeletal osteosarcoma at a previous lesion of calcinosis cutis was observed in one patient at 12 years after juvenile dermatomyositis onset. Limitations: This was a retrospective single-center study, and our results may not be generalizable to other healthcare settings. Prospective multicenter studies are needed to confirm the findings of this study. Conclusion: juvenile dermatomyositis usually poses a diagnostic and therapeutic challenge, which can be compounded by the ethnic variations in the clinical presentation, as observed in this study. Asian patients tend to present with acute or subacute onset of disease, and arthralgia and/or arthritis are less common than in Caucasian patients. Scalp dermatitis is not uncommon in pediatric juvenile dermatomyositis patients. An association between juvenile dermatomyositis and malignancy, though rare, can occur.

scholarly journals SCREENING FOR CONGENITAL HYPOTHYROIDISM WITH UMBILCAL CORD BLOOD TSH LEVEL ‘AN EXPERIENCE FROM A TERTIARY CARE CENTER'

2020 ◽  
pp. 26-27
Author(s):  
Rohan Modi ◽  
Harsh Mod ◽  
Aabha Phalak ◽  
Rutvik Parikh ◽  
Vilas Kavad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cord Blood ◽  
Congenital Hypothyroidism ◽  
Care Center ◽  
Tertiary Care ◽  
Research Centre ◽  
College Hospital ◽  
Cross Sectional ◽  
Screening Programs ◽  
Serum Tsh

BACKGROUND:- Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Screening for congenital hypothyroidism can be helpful in preventing mental retardation among general population. Umbilical cord blood TSH (CBTSH) estimation has been universally accepted and is one of the most cost effective screening programs in the field of preventive medicine and public health. AIMS AND OBJECTIVES:- This study was aimed to find the effectiveness of cord blood TSH as a screening tool for congenital hypothyroidism. MATERIALS AND METHODS:- This hospital based cross sectional study was conducted at GCS Medical College Hospital & Research Centre, Ahmedabad, over a period of one year in 1687 neonates. All newborns delivered at the institute were subjected to cord blood TSH level estimation and a repeat Serum TSH estimation was done at or after 72 hours of life. Diagnosis of congenital hypothyroidism is confirmed postnatally by standard Serum TSH value cut offs as per age. Data collected and statistically analysed. RESULTS:- Out of 1687 neonates born during the study period, 1548 formed the study group. 805 (52%) were males and 743(48%) were females. The birth weight of babies ranged from 850 gms to 4300 gms. The value of CBTSH varied from 1.3mIU/L to 101.4mIU/L with mean CBTSH of 7.21mIU/L. 28(1.8%) babies had CBTSH levels >20mIU/L. Out of which four were later diagnosed to have congenital hypothyroidism. All four had CBTSH levels >20mIU/L. All other neonates with CBTSH levels less than 20mIU/L were found to have normal screening later postnatally. CONCLUSION:- The current study concludes that cord blood TSH is a sensitive marker to screen for congenital hypothyroidism in neonates. A cut off value of cord blood TSH >20mIU/ml can be used for screening purpose.

scholarly journals Immunoglobulin A (IgA) Nephropathy in Protocol Graft Kidney Biopsy done at six months Post Transplantation in a Tertiary Care Center Hospital of Nepal

2017 ◽  
Vol 6 (1) ◽  
pp. 6-11
Author(s):  
Midhan Shrestha ◽  
Dibya Singh Shah
Keyword(s):  
Iga Nephropathy ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
University Teaching ◽  
Time Interval ◽  
Post Transplantation ◽  
Protocol Biopsy ◽  
Post Transplant

Background: Renal transplantation is the treatment of choice for end stage renal disease. The focus of interest has been to increase the life of the transplanted graft. Recurrence of native kidney disease or occurrence of denovo glomerulonephritis has adverse effects in graft survival. Protocol graft biopsy done at fixed time interval after transplantation aids in early identification of post-transplant glomerulonephritis before development of clinical signs and symptoms. This study describes the incidence of post-transplant IgA Nephropathy in protocol renal graft biopsies done at six months post- transplantation.Materials and Methods: This is a hospital based observational descriptive study, done in Tribhuvan University Teaching Hospital, Kathmandu, Nepal, a tertiary medical referral center in the capital. Protocol biopsy of the graft kidney was performed at six months post-transplantation in all recipients who underwent kidney transplantation in this hospital between 2071 Kartik and 2072 Ashwin.Results: Protocol biopsy was performed in total 47 recipients. Mean age of the recipients was 33.7 years ±10.83 years. The study population consisted of 33 (70.2%) male and 14 (29.8%) female recipients. IgA Nephropathy was present in 6 (12.8%) recipients.Conclusion: Our study demonstrates that IgA Nephropathy does occur in patients with stable GFR and without any clinical or laboratory abnormalities. Protocol biopsy is valuable in detection of early histologic abnormalities before onset of clinical manifestations, thus helping in prompt management with aim to prolong the graft survival.Journal of Nobel Medical CollegeVolume 6, Number 1, Issue 10 (January-June, 2017)

scholarly journals Incidental Petrous Apex Findings on Magnetic Resonance Imaging

2001 ◽  
Vol 80 (4) ◽  
pp. 200-206 ◽  
Author(s):  
John P. Leonetti ◽  
Harish Shownkeen ◽  
Sam J. Marzo
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Retrospective Chart Review ◽  
Petrous Apex ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Clinical Surveillance

We performed a retrospective chart review to categorize a group of petrous apex findings that were noted incidentally on magnetic resonance imaging (MRI) in 88 patients. These patients were among those who had been seen at a tertiary care center between July 1988 and July 1998. These incidental findings, which were unrelated to the presenting clinical manifestations, included asymmetric fatty bone marrow (n = 41), inflammation (19), cholesterol granulomas (14), cholesteatomas (9), and neoplasms (5). Followup imaging and clinical surveillance of these patients has not demonstrated any significant change in the incidentally detected lesions. In all cases, the incidental MRI findings represented benign pathology.

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