scholarly journals Background History, Clinical Presentation and Laboratory Profile in Cases of Suspected Neurometabolic Disorders

2016 ◽  
Vol 39 (1) ◽  
pp. 24-29 ◽  
Author(s):  
Mustafa Mahbub ◽  
AZM Mosiul Azam ◽  
Suraj C Mazumder ◽  
Bithi Debnath ◽  
Naila Zaman Khan
Keyword(s):  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Normal Activity ◽  
New Delhi ◽  
Laboratory Findings ◽  
Neurometabolic Disorders ◽  
Wide Range ◽  
History Of ◽  
Background History ◽  
Biotinidase Activity

Background : Neurometabolic disorders (NMD) in children may present at any age with a wide range of clinical manifestations. Unexplained or intractable seizure is one of the important associations. Consanguinity, regression of development and sibling death are the clues to suspect neurometabolic disorders when laboratory support is limited. Laboratory findings however, provide the confirmatory diagnosis which is unavailable in Bangladesh.Objectives : To determine the association of consanguinity, regression of development, seizures, EEG findings and other laboratory investigations in children suspected to have neurometabolic disorders and to aid clinicians working in resourcepoor countries.Methodology : A retrospective analysis was done from the records of the patients suspected to have neurometabolic disorders admitted in the department of Neurosciences, Dhaka Shishu Hospital, Dhaka during the period of July 2007 to February 2011. Tandem Mass Spectrometry (TMS), biotinidase activity and other enzyme assay were done through a private laboratory in New Delhi, India.Results : Total 128 children were studied and the parents of 39 (31%) had history of consanguineous marriage. Seizure was associated with 96 (75%) children and abnormal EEG findings were recorded in 83 (65%). Plasma ammonia was done in 98 cases and found to be increased in 53 (54%) cases. Plasma lactate was done in 94 cases and found high in 40 (43%). TMS were done in 111 (85%) children and abnormality were found in 70 (63%) cases. Serum biotinidase activity was advised for 41 children as per TMS result and measured in 25 children of which deficient activity was found in 17(68%); borderline in 4 (16%) and normal activity in 4 (16%) cases.Conclusion: Background history and clinical presentation followed by stepwise laboratory investigation is necessary to identify neurometabolic disorders. Early and appropriate intervention can reduce neurodisability in many situations.Bangladesh J Child Health 2015; VOL 39 (1) :24-29

scholarly journals Autoimmune thyroiditis: clinical presentation in a Nepalese population

2014 ◽  
Vol 3 (1) ◽  
pp. 44-47
Author(s):  
K Paudel ◽  
B Paudel
Keyword(s):  
Clinical Presentation ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Primary Hypothyroidism ◽  
Cold Intolerance ◽  
Wide Range ◽  
Tingling Sensation ◽  
Pedal Edema ◽  
Antibody Levels ◽  
Hypothyroid Patients

Background: Hypothyroidism has a wide range of clinical presentations. This study was conducted to describe the clinical manifestations of chronic Hashimoto`s thyroiditis (HT) in a Nepalese population. We also tried to identify symptoms or signs characteristic for HT. Methods: During the study period, all newly diagnosed patients with hypothyroidism were interviewed about symptoms, and clinical signs were assessed. The data of hypothyroid patients were divided in two groups: TPO antibody positive and TPO antibody negative. The symptoms and signs of the two groups were analyzed and compared. Results: Among the 88 hypothyroid patients, 33 (37.5%) had positive TPO antibody levels. Female patients were more likely to be TPO antibody positive (41.3% among female and 15.4% among male). The most frequent symptoms were lethargy, cold intolerance, constipation, tingling sensation and weight gain, and the most frequent signs were facial puffiness and non-pitting pedal edema, in both groups. Statistical analysis revealed, that cold intolerance, decreased appetite and insomnia were significantly more prevalent symptoms in the TPO antibody positive group (p<0.05). Conclusion: Hashimoto`s thyroiditis is a common cause of primary hypothyroidism. It is not possible to differentiate it from the clinical presentation. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 68-71 DOI: http://dx.doi.org/10.3126/njms.v3i1.10362

A Review of Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19

2020 ◽  
Vol 24 (4) ◽  
Author(s):  
Alireza Ghodsi ◽  
Abdolreza Malek ◽  
Sara Ghahremani
Keyword(s):  
Clinical Presentation ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Organ Involvement ◽  
High Morbidity ◽  
Laboratory Findings ◽  
Persistent Fever ◽  
Number Of Children ◽  
Relevant Evidence ◽  
Inflammatory Syndrome

: The coronavirus disease 2019 (COVID-19) pandemic, with a high morbidity and mortality rate, has affected all age groups. COVID-19 infection in children usually has minimal symptoms, but the number of children with the inflammatory syndrome with clinical features similar to the Kawasaki disease has increased during the COVID-19 pandemic. Information about this emerging COVID-19 manifestation also called the multisystem inflammatory syndrome in children (MIS-C), is still incomplete. Patients typically present with persistent fever, followed by shock or multi-organ involvement. Laboratory findings and clinical presentation of this multi-organ involvement is part of the diagnostic criteria. Early treatment and multidisciplinary referral to pediatric specialists are essential. The prognosis of MIS-C is not yet fully understood. Although most children survive, several deaths have also been reported. Based on relevant evidence, this study aimed to review the pathophysiology, clinical manifestations, laboratory and imaging findings, diagnosis, treatment recommendations, and prognosis of MIS-C associated with COVID-19.

scholarly journals Patterns of genomic diversification reflect differences in life history and reproductive biology between figs (Ficus) and the stone oaks (Lithocarpus)

Genome ◽  
2017 ◽  
Vol 60 (9) ◽  
pp. 756-761 ◽  
Author(s):  
Chai-Shian Kua ◽  
Charles H. Cannon
Keyword(s):  
Life History ◽  
Evolutionary Relationship ◽  
Genomic Diversity ◽  
Evolutionary Strategies ◽  
Life History Strategies ◽  
Wide Range ◽  
Genomic Divergence ◽  
History Of ◽  
Background History ◽  
Diverse Groups

One of the remarkable aspects of the tremendous biodiversity found in tropical forests is the wide range of evolutionary strategies that have produced this diversity, indicating many paths to diversification. We compare two diverse groups of trees with profoundly different biologies to discover whether these differences are reflected in their genomes. Ficus (Moraceae), with its complex co-evolutionary relationship with obligate pollinating wasps, produces copious tiny seeds that are widely dispersed. Lithocarpus (Fagaceae), with generalized insect pollination, produces large seeds that are poorly dispersed. We hypothesize that these different reproductive biologies and life history strategies should have a profound impact on the basic properties of genomic divergence within each genus. Using shallow whole genome sequencing for six species of Ficus, seven species of Lithocarpus, and three outgroups, we examined overall genomic diversity, how it is shared among the species within each genus, and the fraction of this shared diversity that agrees with the major phylogenetic pattern. A substantially larger fraction of the genome is shared among species of Lithocarpus, a considerable amount of this shared diversity was incongruent with the general background history of the genomes, and each fig species possessed a substantially larger fraction of unique diversity than Lithocarpus.

scholarly journals Diagnosis of von Hippel-Lindau Syndrome Following Endoscopic Ultrasound of the Pancreas

2009 ◽  
Vol 1 (1) ◽  
pp. 41-42
Author(s):  
Jennifer Cannon ◽  
Paul G Gauger ◽  
Gerard M Doherty ◽  
James M Scheiman
Keyword(s):  
Endoscopic Ultrasound ◽  
Islet Cell ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Islet Cell Tumors ◽  
Pancreatic Islet Cell ◽  
Von Hippel Lindau ◽  
History Of ◽  
Pancreatic Islet Cell Tumors ◽  
Von Hippel Lindau Syndrome

ABSTRACT Objective To report a case of von Hippel-Lindau (VHL) syndrome diagnosed by endoscopic ultrasound (EUS) of the pancreas in a patient with no family history of the disease and without any other clinical manifestations of VHL. Methods We describe the clinical presentation of the case and discuss its management. Results A 33-year-old woman was evaluated by EUS for possible pancreatic carcinoma. Based upon the sonographic appearance of her pancreas, VHL was suggested as a diagnosis and subsequently confirmed by genetic testing. The pancreatic lesions were treated surgically and pathology revealed pancreatic islet cell tumors. Conclusion This is the first report of a patient in which the first suggestion of a VHL diagnosis was made on EUS appearance of pancreatic lesions alone.

scholarly journals COVID-19 in Cancer and non-Cancer Patients

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Farzad Taghizadeh-Hesary ◽  
Pejman Porouhan ◽  
Davood Soroosh ◽  
Babak PeyroShabany ◽  
Soodabeh Shahidsales ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Clinical Manifestations ◽  
Laboratory Findings ◽  
Patients With Cancer ◽  
History Of ◽  
Global Concern ◽  
Novel Coronavirus ◽  
Practice Methods ◽  
Control Study ◽  
Chest Ct Scan

Background: There is a global concern for the susceptibility of patients with cancer to the adverse effects of novel coronavirus disease (COVID-19). Objectives: Nevertheless, there is a signal of potentially increased vulnerability of patients with cancer to more COVID-19-induced mortality, this notion needs to be further evaluated in various societies with different cancer epidemiology and practice. Methods: In this case-control study, done in Iran, we evaluated the medical records of patients with cancer (Ca+ patients) who infected with COVID-19 and compare them with patients without a medical history of cancer (Ca- patients). Clinical data were collected from 19 February 2020 to 17 May 2020. The extracted data were classified into demographics, underlying medical conditions, clinical manifestations, imaging and laboratory findings, and clinical outcomes. Results: A total of 24 Ca+ patients were compared with 44 Ca- patients in terms of clinical manifestations and outcomes of COVID-19. The Ca- patients significantly developed more dry cough (75.0% vs 29.2%, P = 0.01) and fever (72.7% vs 45.8%, P = 0.02). Findings of the chest CT scan was comparable between groups, except for pleural effusion and lymphadenopathy that exclusively reported in Ca+ patients. (3% and 4%, respectively). At the end of observation, 13 (19.1%) patients died from COVID-19. This rate was significantly higher in Ca+ patients (41.7 vs 6.8%, P = 001). Likewise, Ca+ patients experienced more mechanical ventilation (25.0 vs 4.7%, P = 0.01). However, the rate of ICU admission was comparable between groups (P = 0.29). Conclusions: The patients with cancer had a higher rate of mechanical ventilation and COVID-19-induced mortality.

scholarly journals Neurological findings of a series of patients with chromosome 18 trisomy (Edwards syndrome) in mosaic

2021 ◽  
Author(s):  
Bruno Custódio Silva ◽  
Hugo Roberto Sampaio Martins ◽  
Thais Vanessa Salvador ◽  
Guilherme Parmigiani Bobsin ◽  
Paulo Ricardo Gazzola Zen ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Neurological Symptoms ◽  
Clinical Genetics ◽  
Chromosome 18 ◽  
Older Patient ◽  
Internal Organs ◽  
Edwards Syndrome ◽  
History Of

Introduction: Chromosome 18 trisomy or Edwards syndrome (ED) is characterized by wide clinical manifestations, usually associated with neurological symptoms and a poor prognosis. Objective, materials and methods: Describe the clinical findings, especially the neurological ones, of a sample of patients with mosaic chromosome 18 trisomy. These were evaluated at a Clinical Genetics Service from 1975 to 2008. Results: During the study, 50 patients with ED were diagnosed, 5 of them (10%) in mosaic. The average number of cells analyzed in these cases was 27,8. Three of the 5 patients (60%) were male. The age at evaluation ranged from 14 to 5926 days (median 93 days). The small number of clinical findings described was noteworthy, both in the dysmorphological evaluation and complementary exams. The main changes were micrognathia (n = 3), low ears implanted (n = 2), retroverted ears (n = 3), clenched fists with overlapping toes (n = 2) and clubfoot (n = 1). As for internal organs, congenital heart disease was reported in 2 cases (40%). All patients had a history of delayed neuropsychomotor development. The older patient also had a description of cognitive impairment and seizures. Conclusions: The clinical presentation of our patients is consistent with what is described in the literature, since they point out due to small number of changes. However, the delay in neuropsychomotor development and neurological symptoms are constant findings. Thus, pediatricians and neurologists should be aware of this possibility.

scholarly journals Subacute Sclerosing Panencephalltis: Clinical and Laboratory Manifestations

2019 ◽  
Vol 32 (5-6) ◽  
pp. 107-17
Author(s):  
Hardiono D. Pusponegoro ◽  
Jimmy Passat ◽  
M. Hardjono Abdoerachman
Keyword(s):  
Age Of Onset ◽  
Subacute Sclerosing Panencephalitis ◽  
Clinical Manifestations ◽  
Social Contact ◽  
Cortical Atrophy ◽  
Laboratory Findings ◽  
Immunization Programme ◽  
Positive Antibody ◽  
Burst Pattern ◽  
History Of

We reviewed clinical and laboratory findings of 12 cases of Subacute sclerosing panencephalitis (SSPE) hospitalized at our department from 1985 to 1991. All cases were diagnosed and hospitalized at the 2nd stage. The principal clinical manifestations were mental changes, myoclonus, and frequent falls. Other clinical manifestations were ocular changes, involuntary movements, loss of social contact, and spasticity. Diagnosis was based on suppression-burst pattern in EEG and positive antibody titer to measles in serum and cerebrospinal fluid. CT scan was not diagnotic, since it was either normal or showed only non-specific cortical atrophy. Eleven patients (91, 7%) recalled a history of measles in the past. Age of onset of SSPE varied among cases and was difficult to specify precisely due to its subtle nature. None of the cases had been vaccinated against measles. SSPE is a rare disease, but is almost always fatal with prolonged suffering of the patient. Based on our experience with SSPE patients, we recommend to broaden the immunization programme against measles.

scholarly journals Clinical Presentation of Primary Hyperparathyroidism in Lahore, Pakistan – A Single Center Study

2021 ◽  
Vol 5 (5) ◽  
pp. 01-03
Author(s):  
Rizwan Khalid ◽  
Muhammad Hassaan ◽  
Ali Raza
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Presentation ◽  
Renal Involvement ◽  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Screening Tests ◽  
Cross Sectional ◽  
Wide Range ◽  
Common Clinical Presentation ◽  
Time Of Presentation

Aim: To assess different clinical presentations and outcomes of primary hyperparathyroidism in Pakistan. Study Design: Retrospective cross-sectional study. Study Setting: East Surgical Ward, Mayo Hospital, Lahore. Duration: 2011 to 2016 Introduction: PHPT is a common endocrine condition with a wide range of clinical manifestations differing according to geographic. Discussion: The most common clinical presentation in our study was bone pains which were in contrast to the asymptomatic cases being most common manifestation in US and Western countries. 90% (n 36) of the patients had bony involvement while 47.5% (n 19) had renal involvement at the time of presentation. Conclusion: Due to lack of routine biochemical screening tests in developing countries, primary hyperparathyroidism is detected late.

scholarly journals Review of the practical manual for physicians «Mediastinitis» by M. M. Abakumov (Moscow, MK, 2020: 296. (In Russ.))

2021 ◽  
Vol 180 (2) ◽  
pp. 108-111
Author(s):  
I. M. Samokhvalov
Keyword(s):  
Emergency Medicine ◽  
Clinical Presentation ◽  
Practical Experience ◽  
Diagnosis And Treatment ◽  
Postoperative Treatment ◽  
Wide Range ◽  
History Of ◽  
Acute Mediastinitis ◽  
Research Institute

A review of the manual for physicians «Mediastinitis» published in 2020, written by the famous Russian surgeon and scientist Professor Mikhail Mikhailovich Abakumov, is presented. The manual is based on the study of pathogenesis and practical experience in the diagnosis and treatment of patients with various forms of mediastinitis at the Sklifosovsky Research Institute for Emergency Medicine for 40 years. Sections of the manual include the history of the problem, terminology and classification issues, pathogenesis, clinical presentation and diagnosis, surgery and postoperative treatment of mediastinitis. The manual is intended for a wide range of surgeons who may be involved in acute mediastinitis diagnosis and treatment.

scholarly journals Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yasemin Ardicoglu Akisin ◽  
Zafer Arslan ◽  
Serdar Ceylaner ◽  
Nejat Akar
Keyword(s):  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Recessive Inheritance ◽  
Case Presentation ◽  
The People ◽  
Dehydrogenase Gene ◽  
Severe Clinical Presentation ◽  
History Of ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Three Sisters

Abstract Objectives Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.

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