scholarly journals Manifestaciones clínicas asociadas al síndrome de Prader-Willi: Revisión Descriptiva

2018 ◽  
Vol 30 (1) ◽  
Author(s):  
Jesús Dzul Hernández ◽  
Rossana Borges Cauich ◽  
Montserrat Rodríguez Huchim ◽  
Guillermo Pérez Correa ◽  
Nina Mendez-Dominguez ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Low Frequency ◽  
Signs And Symptoms ◽  
Diagnostic Techniques ◽  
Prader Willi Syndrome ◽  
Specific Patient ◽  
Calidad De Vida ◽  
Wide Range

RESUMEN El síndrome de Prader–Willi (SPW) es un trastorno genético, que afecta el neurodesarrollo que, a pesar de su baja frecuencia, merece ser considerado como un trastorno de relevancia clínica al ser la causa más frecuente de obesidad de origen genético. Las manifestaciones clínicas que derivan de SPW tienen origen en la desregulación hipotalámica, por lo cual, comprendiendo la trascendencia e implicación de la afectación hipotalámica, puede comprenderse la amplia gama de manifestaciones que pueden presentarse con severidad variable y cuyas complicaciones su vez la afectación a la salud y socialización a largo plazo afectando la calidad de vida de los pacientes con SPW. Un diagnóstico preciso permite distinguir este síndrome de otros trastornos genéticos y de otras patologías que afectan la función hipotalámica a la vez que permite estimar la gravedad de las manifestaciones y el riesgo de repetición en una misma familia. Por ello, la presente revisión descriptiva se ofrece con el objetivo de describir las manifestaciones clínicas del síndrome de Prader-Willi que orienten la sospecha clínica, las similitudes que presenta este síndrome con otros trastornos, así como presentar las técnicas de diagnóstico disponibles que permiten orientar adecuadamente el abordaje de los pacientes y facilitar su manejo integral oportunamente.ABSTRACT: Prader-Willi syndrome (PWS) is a genetic disorder that affects neurodevelopment, which, despite its low frequency, deserves to be considered a clinically relevant disorder since it is the most frequent cause of genetically derived obesity. The clinical manifestations that derive from SPW correlate to those from a hypothalamic dysregulation, so that, understanding the importance and implication of the hypothalamic involvement, the wide range of manifestations that can present with variable severity and whose complications in turn affect the health can be understood. and long-term socialization affecting the quality of life of patients with PWS. An accurate diagnosis can discriminate this syndrome from other genetic disorders and from non-genetic pathologies that affect hypothalamic function, while also allowing to estimate the severity in a specific patient and the risk of repetition in other family members. Therefore, the present descriptive review is aimed to describe the clinical manifestations of Prader-Willi syndrome to guide the clinical diagnosis; the signs and symptoms that can differentiate this syndrome from other disorders, as well as presenting a description of the actual diagnostic techniques that can allow a prompt and precise diagnosis, and thus, translate in a comprehensive and timely approach of the patients with PWS.

scholarly journals Effects of Bifidobacterium animalis Subsp. lactis (BPL1) Supplementation in Children and Adolescents with Prader–Willi Syndrome: A Randomized Crossover Trial

Nutrients ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 3123
Author(s):  
Montse Amat-Bou ◽  
Sonika Garcia-Ribera ◽  
Eric Climent ◽  
Irene Piquer-Garcia ◽  
Raquel Corripio ◽  
...  
Keyword(s):  
Mental Health ◽  
Crossover Trial ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Prader Willi Syndrome ◽  
Mental Health Symptoms ◽  
Health Symptoms ◽  
Bifidobacterium Animalis ◽  
Randomized Crossover Trial ◽  
Wide Range

Prader–Willi syndrome (PWS) is a rare genetic disorder characterized by a wide range of clinical manifestations, including obesity, hyperphagia, and behavioral problems. Bifidobacterium animalis subsp. lactis strain BPL1 has been shown to improve central adiposity in adults with simple obesity. To evaluate BPL1′s effects in children with PWS, we performed a randomized crossover trial among 39 patients (mean age 10.4 years). Participants were randomized to placebo–BPL1 (n = 19) or BPL1–placebo (n = 20) sequences and underwent a 12-week period with placebo/BPL1 treatments, a 12-week washout period, and a 12-week period with the crossover treatment. Thirty-five subjects completed the study. The main outcome was changes in adiposity, measured by dual-energy X-ray absorptiometry. Secondary outcomes included lipid and glucose metabolism, hyperphagia, and mental health symptoms. Generalized linear modeling was applied to assess differences between treatments. While BPL1 did not modify total fat mass compared to placebo, BPL1 decreased abdominal adiposity in a subgroup of patients older than 4.5 years (n = 28). BPL1 improved fasting insulin concentration and insulin sensitivity. Furthermore, we observed modest improvements in some mental health symptoms. A follow-up trial with a longer treatment period is warranted to determine whether BPL1 supplementation can provide a long-term therapeutic approach for children with PWS (ClinicalTrials.gov NCT03548480).

An Update of Gorlin-Goltz Syndrome

2018 ◽  
Vol 7 (3) ◽  
pp. 38-41 ◽  
Author(s):  
Aliya Hasan ◽  
Dapo Akintola ◽  
Aliya Hasan ◽  
Dapo Akintola
Keyword(s):  
Clinical Signs ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Oral Manifestations ◽  
Early Referral ◽  
Goltz Syndrome ◽  
Dental Practitioners ◽  
Wide Range ◽  
Risk Of Malignancy ◽  
Clinical Signs And Symptoms

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. The author will pay particular attention to the oral manifestations of the condition and the management of such anomalies.

scholarly journals Immunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yong-Zhe Zhang ◽  
Geng Jian ◽  
Ping He ◽  
Rui Yu ◽  
Mi Tian ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Wilson Disease ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Immunoglobulin A ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Atypical Presentations

Abstract Background Wilson disease (WD) is a rare genetic disorder of copper metabolism. Differences in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical features of WD make diagnosis challenging, delaying the best chance for treatment. Case presentation We report a case of a 26-year-old man with nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated immunoglobulin A (IgA) nephropathy and tubular injury, which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. Based on results showing abnormal copper metabolism, corneal Kayser–Fleischer rings, and genetic disorders in the ATP7B gene, the patient was finally diagnosed with WD. After treatment with oral penicillamine, zinc sulfate and losartan, the patient showed alleviation of both WD and nephropathy after 3 years of follow-up. He maintained a good quality of daily life. Conclusion This case highlights that unexplained neurological and liver symptoms in patients with IgA nephropathy can be clues for WD.

scholarly journals Nasopharyngeal Tuberculosis: Epidemiology, Mechanism of Infection, Clinical Manifestations, and Management

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Chonticha Srivanitchapoom ◽  
Pichit Sittitrai
Keyword(s):  
Case Reports ◽  
Clinical Manifestations ◽  
Cervical Lymphadenopathy ◽  
Diagnostic Techniques ◽  
Disease Treatment ◽  
Tuberculosis Epidemiology ◽  
Nasopharyngeal Biopsy ◽  
Wide Range ◽  
Multiple Case ◽  
Serious Disease

Nasopharyngeal tuberculosis (NPTB) is a noteworthy disease especially in its worldwide spread of theMycobacteriuminfection. Although NPTB has been identified in less than one percent of TB cases, recent multiple case reports indicate an either increased awareness or incidence of this disease. The most helpful diagnostic tool is an uncomplicated nasopharyngeal biopsy. However, NPTB is usually ignored because it has varied clinical manifestations and similar presentations with other more common head and neck diseases. Furthermore, the most common presenting symptom is cervical lymphadenopathy mimicking nasopharyngeal carcinoma, a more common and serious disease. Treatment outcomes of NPTB are good in both HIV-positive or HIV-negative patients. In addition, pulmonary tuberculosis association was reported in wide range between 8.3% and 82% which should be considered in a treatment program. In conclusion, early diagnosis and management in NPTB can be achieved by (1) increased awareness of this disease, (2) improvement in knowledge regarding clinical manifestations, and (3) improvement of diagnostic techniques.

Up to Date in Internal Medicine: From Older to the New 2019 Systemic Lupus Erythematosus Classification Criteria

2019 ◽  
Vol 16 (6) ◽  
pp. 29-35
Author(s):  
Alina Dima ◽  
Bianca Dumitrescu ◽  
Daniela Nicoleta Popescu ◽  
Magda Pârvu
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Classification Criteria ◽  
Systemic Lupus ◽  
American College Of Rheumatology ◽  
European League Against Rheumatism ◽  
Autoimmune Pathology ◽  
Wide Range

AbstractSystemic lupus erythematosus (SLE) is considered the prototype of autoimmune diseases, the most complex autoimmune pathology and it is characterized by a wide range of immune processes, important antibodies production as well as an impressive spectrum of clinical manifestations. The great variety of lupus signs and symptoms caused difficulties in establishing well-defined classification criteria, as well as sustaining the clinical diagnosis.In 2019, a joint initiative of European League Against Rheumatism (EULAR) and American College of Rheumatology (ACR) released a new set of classification criteria for SLE, worldwide SLE experts were involved, this being the largest SLE classification effort up to date.

scholarly journals Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Qun Li ◽  
Guoying Chang ◽  
Lei Yin ◽  
Juan Li ◽  
Xiaodong Huang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Genetic Variations ◽  
Chinese Children ◽  
Chinese Patients ◽  
Cornelia De Lange Syndrome ◽  
Gene Variants ◽  
Wide Range ◽  
Cornelia De Lange

AbstractCornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS in Chinese children, we identified 15 unrelated Chinese children who presented with unusual facial features, short stature, developmental delay, limb abnormalities, and a wide range of health conditions. In this study, targeted-next generation sequencing was used to screen for causal variants and the clinically relevant variants were subsequently verified using Sanger sequencing. DNA sequencing identified 15 genetic variations, including 11 NIPBL gene variants, two SMC1A gene variants, one RAD21 gene variant, and one HDAC8 variant. The phenotype of these patients was summarized and differences between this cohort and another four groups were compared. The clinical manifestations of the patients in this cohort were mostly consistent with other ethnicities, but several clinical features in our cohort had different frequencies compared with other groups. We identified 15 deleterious variants of which 11 were novel. Variants in the NIPBL gene were the most common cause in our cohort. Our study not only expands upon the spectrum of genetic variations in CdLS, but also broadens our understanding of the clinical features of CdLS.

scholarly journals ASPEK GENETIK TALASEMIA

2013 ◽  
Vol 1 (3) ◽  
Author(s):  
Joyce Regar
Keyword(s):  
Family History ◽  
Life Span ◽  
Genetic Factor ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Laboratory Examinations ◽  
Clinical Signs And Symptoms ◽  
Haemoglobin Synthesis

Abstract: Genetic disorders are caused by the presence of affected genes. Thalassaemia, a kind of anaemia due to a genetic disorder, reveals defects in haemoglobin synthesis and chain balance. Signs and symtomps depend on the severity of this disease which vary from slight anemia to facies Cooley, the main characteristic of thalassaemia patients. Diagnosis of thalassaemia is based on clinical signs and symptoms, ethnicity, family history, laboratory examinations, and other supporting examinations. Good management can prolong the life span of thalassaemia patients. Key words: thalassaemia, genetic factor, haemoglobin Abstrak: Penyakit genetik adalah penyakit yang disebabkan oleh karena adanya kelainan dalam susunan gen seseorang. Talasemia merupakan salah satu jenis anemia akibat adanya defek dalam sintesis hemoglobin dan keseimbangan rantainya dengan faktor genetik sebagai penyebab utama. Gejala yang timbul tergantung tingkat keparahan penyakit ini, mulai dari anemia ringan hingga facies Cooley yang merupakan ciri khas pengidap talasemia. Diagnosis talasemia dapat ditegakkan berdasarkan gejala klinik, asal etnis, riwayat keluarga, pemeriksaan keluarga, pemeriksaan laboratorium, dan pemeriksaan penunjang lainnya. Penatalaksanaan yang baik dapat memperpanjang masa hidup dari penderita talasemia. Kata kunci: talasemia, faktor genetik, hemoglobin

scholarly journals HUMAN BARTONELLA INFECTION: A REVIEW OF LITERATURE

2021 ◽  
Vol 27 (2) ◽  
pp. 3759-3764
Author(s):  
Bistra Blagova ◽  
◽  
Nikolay Yanev ◽  
Keyword(s):  
Current Knowledge ◽  
Bartonella Henselae ◽  
Clinical Manifestations ◽  
Diagnostic Techniques ◽  
Etiological Agent ◽  
Cat Scratch Disease ◽  
Review Of Literature ◽  
Clinical Syndromes ◽  
Wide Range

Cat scratch disease has been reported in the literature for more than half a century as a syndrome of regional lymphadenopathy and fever. However, only a quarter of a century has passed since Bartonella henselae was identified as an etiological agent. As diagnostic techniques have improved, Bartonella has been found to be responsible for a wide range of clinical syndromes. This review summarizes current knowledge about microbiology, clinical manifestations, diagnostic techniques and treatment of Bartonella henselae infection.

Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome

2002 ◽  
Vol 33 (1) ◽  
pp. 141-153 ◽  
Author(s):  
A. J. HOLLAND ◽  
J. E. WHITTINGTON ◽  
J. BUTLER ◽  
T. WEBB ◽  
H. BOER ◽  
...  
Keyword(s):  
Learning Disabilities ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Learning Disabled ◽  
Structured Interview ◽  
Prader Willi Syndrome ◽  
Multiple Sources ◽  
Behavioural Phenotype ◽  
Severe Problem

Background. Prader-Willi syndrome (PWS) is a genetic disorder resulting in obesity, short stature, cryptorchidism, learning disabilities (mental retardation) and severe neonatal hypotonia. Associated with the syndrome are a number of behaviours that are sufficiently distinctive that the syndrome is considered to have a specific ‘behavioural phenotype’.Methods. Through multiple sources we attempted to identify all people with PWS living in one region in the UK. This cohort was augmented by people with PWS from other regions, and a contrast group of people with learning disabilities of varied aetiologies. The main carers were interviewed, using structured and semi-structured interview schedules, to establish the presence and severity of specific behaviours, and PWS diagnostic criteria. The intellectual functioning and attainments of all were determined. Blood samples were obtained for genetic diagnosis from all consenting participants.Results. Although excessive eating was recognized as a potentially severe problem in those with PWS, it was almost universally controlled by food restriction, and therefore not seen as a ‘problem behaviour’. Those with PWS differed from a learning disabled group of other aetiologies in the prevalence rates of skin picking, temper tantrums, compulsive behaviours and mood fluctuations, and also in the profile of their adaptive behaviours.Conclusions. The study confirms the distinct behavioural phenotype of PWS. Specific behaviours occurred significantly more frequently in PWS, compared with an age and BMI matched learning disabled comparison group. A factor analysis of the behaviours involved resulted in three factors that we hypothesized to be independent, and to arise from different mechanisms.

scholarly journals Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review

2021 ◽  
Vol 22 (4) ◽  
pp. 1993
Author(s):  
Luigi Napolitano ◽  
Biagio Barone ◽  
Simone Morra ◽  
Giuseppe Celentano ◽  
Roberto La Rocca ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hormone Deficiency ◽  
Evidence Based ◽  
Prader Willi Syndrome ◽  
Complex Genetic Disorder ◽  
Evidence Based Therapy ◽  
Behavioral Disability

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder related to the lack of a functional paternal copy of chromosome 15q11-q13. Several clinical manifestations are reported, such as short stature, cognitive and behavioral disability, temperature instability, hypotonia, hypersomnia, hyperphagia, and multiple endocrine abnormalities, including growth hormone deficiency and hypogonadism. The hypogonadism in PWS is due to central and peripheral mechanisms involving the hypothalamus-pituitary-gonadal axis. The early diagnosis and management of hypogonadism in PWS are both important for physicians in order to reach a better quality of life for these patients. The aim of this study is to summarize and investigate causes and possible therapies for hypogonadism in PWS. Additional studies are further needed to clarify the role of different genes related to hypogonadism and to establish a common and evidence-based therapy.

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