scholarly journals Bardet-biedl syndrome: A case report from Nepal

2021 ◽  
Vol 12 (8) ◽  
pp. 158-163
Author(s):  
Rajesh Kumar Mandal ◽  
Rajan Pande ◽  
Rajani Shah KC ◽  
Bibek Acharya
Keyword(s):  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Disorder ◽  
Multiple Organ ◽  
Bardet Biedl Syndrome ◽  
Medical Centers ◽  
Organ Systems ◽  
History Of ◽  
Males And Females ◽  
Consanguinous Marriage

The Bardet–Biedl syndrome (BBS) is a rare ciliopathic autosomal-recessive disorder, with multiple organ systems involvement. It is usually seen in family with consanguinous marriage.   It is characterized by truncal obesity, polydactyly, retinal dystrophy, mental retardation, renal dysfunction and hypogonadism in males. It affects both males and females. Very few cases are reported in Nepal. Here we report a 30 year obese lady who presented to our center with history of excessive weight gain and blindness with polydactyly. She visited many local medical centers before landing to our hospital.  

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

Abstract 12563: Retrospective Analysis of Cardiovascular Events With the Use of Immune Checkpoint Inhibitors

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Tushar Tarun ◽  
Brian P Bostick ◽  
Deepa Baswaraj ◽  
Nishchayjit Basra ◽  
Meeshal Khan ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Retrospective Analysis ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Multiple Organ ◽  
Fulminant Myocarditis ◽  
Organ Systems ◽  
History Of

Introduction: Immune checkpoint inhibitors have emerged as a promising, novel therapy for multiple malignancies. Immune-related adverse reactions pose a serious concern with use of these agents and reportedly involve multiple organ systems, notably cardiotoxicity. Early identification and management of these adverse events is essential in the prevention of morbidity and mortality. Hypothesis: Immune checkpoint inhibitors cause multiple cardiotoxic effects, and patients with prior cardiac history have a higher likelihood of cardiotoxicity. Methods: 1. A retrospective analysis of 150 patients was performed who had received immunotherapy with either the cytotoxic T lymphocyte associated antigen 4 inhibitors (CTLA4) or with the programmed cell death inhibitors (PD1) or programmed death-ligand 1 (PD-L1) inhibitors for a period of two years at a Tertiary health Care from 7/1/2016-6/30/2018. 2. Patients' cardiac diagnoses prior to the initiation of therapy were noted and included, including history of heart failure, coronary artery disease, atrial fibrillation, and sudden cardiac arrest. 3. Patients’ clinic visits and hospitalizations with admitting and discharge diagnosis, electrocardiogram, echocardiogram, troponin T, and NT-proBNP were reviewed. Results: 6% of patients had new onset heart failure (both preserved and reduced), 1.3% had evidence of myocardial infarction, 2% had new atrial fibrillation with rapid ventricular rate, and 0.6% had fulminant myocarditis. Of patients with new cardiac events, 60% had a history of cardiac disease, which was significantly higher than in patients without (p< 0.05). There were no age or sex differences between the groups with and without cardiotoxicity. Conclusion: Immunotherapy with immune checkpoint inhibitors have broadened the horizon for treatment of multiple solid and hematological malignancies. Nonetheless, new adverse effects on multiple organ systems, specifically cardiac involvement, occur with these therapies, which are important and potentially detrimental toxicities. Patients with a history of prior cardiovascular disease have higher likelihood to develop cardiotoxicity.

Abetalipoproteinemia Presenting as Severe Vitamin K Deficiency

PEDIATRICS ◽  
1980 ◽  
Vol 65 (1) ◽  
pp. 161-163
Author(s):  
Fernan M. Caballero ◽  
George R. Buchanan
Keyword(s):  
Vitamin K ◽  
Autosomal Recessive ◽  
Neonatal Period ◽  
Chronic Diarrhea ◽  
Autosomal Recessive Disorder ◽  
Vitamin K Deficiency ◽  
History Of ◽  
K Deficiency ◽  
First Time ◽  
To Receive

Vitamin K deficiency has occasionally been observed in infants after the immediate neonatal period when one or more of the following features is present: diet consisting entirely of breast milk, failure to receive prophylactic vitamin K shortly after birth, therapy with broad-spectrum antibiotics, or chronic diarrhea accompanying malabsorption due to cystic fibrosis or to various acquired causes.1-7 In this report we describe for the first time an infant with the uncommon autosomal recessive disorder abetalipoproteinemia whose major presenting manifestation in early infancy was hemorrhage due to vitamin K deficiency. CASE REPORT A 6-week-old baby was brought in for evaluation because of a two- to three-week history of easy bruising.

scholarly journals Correlation of lateral placental location with development of preeclampsia

2020 ◽  
Vol 9 (3) ◽  
pp. 1017
Author(s):  
Anjali Gupta ◽  
Priyanka Bansal ◽  
Jyotsna Sen ◽  
Savita Rani Singhal
Keyword(s):  
Prospective Observational Study ◽  
Previous History ◽  
Antenatal Clinic ◽  
Severe Anaemia ◽  
Multiple Organ ◽  
Clinical Syndrome ◽  
Chronic Hypertension ◽  
Singleton Pregnancy ◽  
Organ Systems ◽  
History Of

Background: Preeclampsia is a complex clinical syndrome which involves multiple organ systems and remains the principle cause of maternal and perinatal morbidity and mortality. Preeclampsia is a disease of trophoblastic tissue. Placental abnormality is one of the initial events in patients who are destined to develop pregnancy induced hypertension subsequently. Objective of this study was to evaluate the association of laterally located placenta on ultrasound with development of preeclampsia.Methods: This prospective observational study was conducted on 200 antenatal women with singleton pregnancy at 18-24 weeks of gestation who attended antenatal clinic of obstetrics and gynaecology, PGIMS Rohtak from October 2017 to October 2018. Detailed antenatal transabdominal ultrasound along with placental location was done between 18-24 weeks of gestation in women who fitted into inclusion criteria. All the antenatal women belonged to 18-24 weeks of gestation were included in the study except those women with chronic hypertension, diabetes mellitus, renal disease, severe anaemia, thyrotoxicosis, low lying placenta, previous history of preeclampsia or eclampsia.Results: Out of 200 antenatal women, 84 had lateral placenta while 116 had central placenta. Out of these 84 women who had lateral placenta, 55 women (65.5%) developed preeclampsia and out of 116 (58%) women who had central placenta, 28 women (24.1%) developed preeclampsia.Conclusions: From the above study, we concluded that women with laterally located placenta by ultrasound at 18-24 weeks of gestation have greater risk of developing preeclampsia.

scholarly journals MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

2006 ◽  
Vol 14 (5) ◽  
pp. 543-548 ◽  
Author(s):  
Daniel J Hampshire ◽  
Mohammed Ayub ◽  
Kelly Springell ◽  
Emma Roberts ◽  
Hussain Jafri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Disorder ◽  
Truncal Obesity

scholarly journals Effect of Prior History of Dementia and a Diagnosis of COVID-19 on Delirium in the ICU

2020 ◽  
Vol 3 ◽  
Author(s):  
Amira Kupty ◽  
Fen-Lei Chang
Keyword(s):  
Retrospective Chart Review ◽  
Multiple Organ ◽  
Prior History ◽  
Organ Systems ◽  
Increased Risk ◽  
History Of ◽  
Recent Diagnosis ◽  
Potential Factors ◽  
Icu Delirium ◽  
Severity Of Dementia

Background: Delirium occurred in nearly two out of every three patients in the ICU from prior studies. It is associated with poor health outcomes, including long-term cognitive and motor decline, increased risk of dementia, and increased mortality. In the context of COVID-19, patients are more likely to develop delirium due to the severity of the illness involving multiple organ systems. Our study evaluates factors contributing to the occurrence of delirium in the ICU for patients with or without a history of dementia and with or without a recent diagnosis of COVID-19.  Methods: We performed a retrospective chart review of ICU patients in Fort Wayne, IN from January through the end of June of 2020. Patients were grouped by whether they developed delirium or not and whether they had pre-existing dementia. We recorded age, sex, race, BMI, level of education, high risk medications, comorbidities, enteric/NPO feeding, mechanical ventilation, mobility, and lab results including CBC and BMP at the onset of delirium. Additionally, we included severity of delirium, length of stay, functional status at time of discharge, and COVID-19 status.   Results: We were unable to collect data at the time. However, we hypothesized that the incidence and severity of ICU delirium is associated with the severity of dementia and COVID status, among other factors.  Potential Impact: This study can shed light on the contribution of dementia history to ICU delirium and potential factors contributing to delirium incidence and severity. The COVID pandemic offers opportunities to differentiate effects of neurological (dementia) versus non-neurological factors (respiratory, renal, cardiovascular, and metabolic) on ICU delirium. 

Bardet-Bidel Syndrome: A Case Report

2013 ◽  
Vol 12 (3) ◽  
pp. 67-69
Author(s):  
Kamal Hossain ◽  
Md Badruddoza
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Dystrophy ◽  
Learning Difficulties ◽  
Clinical Findings ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Characteristic Features ◽  
Human Genetic Disorder ◽  
And Function

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

Treatment-resistant cough: a rare manifestation of IgG4-related disease involving the larynx

2020 ◽  
Vol 13 (11) ◽  
pp. e237614
Author(s):  
Azfar Shahid Syed ◽  
Rhonda E Colombo ◽  
Bakhtiar S Syed ◽  
Peter M Henning
Keyword(s):  
Multiple Organ ◽  
Antibody Treatment ◽  
Igg4 Related Disease ◽  
Organ Systems ◽  
Airway Symptoms ◽  
Rare Manifestation ◽  
Usual Therapy ◽  
Monoclonal Antibody Treatment ◽  
History Of ◽  
Anti Cd20

IgG4-related autoimmune diseases (IgG4 RD) are a relatively recently recognised group of disease processes that can affect multiple organ systems and result in protean symptoms. Here, we present a rare case of a 69-year-old man with a history of IgG4 RD affecting his lacrimal gland and pancreas who developed symptoms of severe laryngitis not responsive to usual therapy. He presented with non-productive cough, hoarseness and dyspnoea. Imaging findings suggestive of aortitis and laryngeal inflammation in the setting of his IgG4 RD history prompted treatment with rituximab, which resulted in resolution of his laryngeal symptoms. Subsequently, his cough returned and he required periodic rituximab infusions to stay symptom-free. IgG4 RD of the larynx is an uncommonly reported manifestation in literature. This disease is very responsive to anti-CD20 monoclonal antibody treatment. IgG4 RD should be considered in patients with airway symptoms that are especially refractory to usual therapy.

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