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

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

World Journal of Endocrine Surgery ◽

10.5005/jp-journals-10002-1009 ◽

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.

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

10.5327/1516-3180.074 ◽

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.

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Unrecognized tuberculosis in a patient with COVID-19

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh200730006s ◽

2021 ◽

pp. 6-6

Author(s):

Mihailo Stjepanovic ◽

Slobodan Belic ◽

Ivana Buha ◽

Nikola Maric ◽

Marko Baralic ◽

...

Keyword(s):

Clinical Presentation ◽

Chronic Illnesses ◽

Immune Systems ◽

Indicator Tube ◽

Global Pandemic ◽

Severe Clinical Presentation ◽

History Of ◽

Growth Indicator

Introduction. COVID-19 is responsible for the current global pandemic. Globally, over 15 million people are currently infected, and just over 600,000 have died due to being infected. It is known that people with chronic illnesses and compromised immune systems can develop more severe clinical presentation. Tuberculosis is still one of the biggest epidemiological problems worldwide. Both of these diseases can be misdiagnosed and can manifest in a similar way. We will present a case study of a patient who was initially treated as a COVID-19 infection, with Tuberculosis being diagnosed later on. The recovery began only after being treated for both diseases simultaneously. Case report. The patient is a 27-year-old male, non-smoker, with no history of any significant diseases. He presented with fever, fatigue and hemoptysis. Computed tomography pulmoangiography had shown massive consolidations and excavations, which could be caused by COVID-19. Despite being treated for COVID-19, there was no clinical improvement. On the follow-up chest X-radiograohy, beside signs of COVID-19, there were also changes that could indicate Tuberculosis. Tuberculosis was detected in sputum, using PCR and Mycobacteria Growth Indicator Tube, and only after being treated for both diseases did his condition improve. Conclusion. There are a few reported cases of COVID-19 and Tuberculosis coinfections, and we believe that there are many more patients with this coinfection being unrecognized.

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A Solitary Giant Neurofibroma of Inguinal Region—A Case Report

10.21203/rs.3.rs-39194/v1 ◽

2020 ◽

Author(s):

Haiying Zhou ◽

Hui Lu

Keyword(s):

Tumor Resection ◽

Clinical Manifestations ◽

Inguinal Region ◽

Case Presentation ◽

Neurogenic Tumors ◽

Long Time ◽

Giant Neurofibroma ◽

History Of ◽

Recurrence Tendency

Abstract Background:Neurofibroma is a rare nerve sheath tumorofneuroectodermal origin, especially the huge and isolated neurofibroma located in the inguinal region. To our knowledge, no such case has previously been reported.Case presentation:We report a case of 34-year-old male patient with a 4-year history of progressive enlargement of the medial root mass in his left thigh with sitting and standing disorders along with pain. The tumor was completely removed by operation, and pathological diagnosisshowed neurofibroma. There was no obvious neurologic defect after surgery, and no recurrence tendency was found in the follow-up of 2years.Conclusions:For a large solitary mass with slow growth and no malignant clinical manifestations for a long time, clinicians can not rule out the hypothetical diagnosis of neurofibroma, even though its growth site is very rare, such as this case of a huge tumor located in the groin. For neurogenic tumors, early operation should be performed, and the prognosis of patients after tumor resection isexcellent.

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Pneumoconiosis with a Sarcoid-Like Reaction Other than Beryllium Exposure: A Case Report and Literature Review

Medicina ◽

10.3390/medicina56110630 ◽

2020 ◽

Vol 56 (11) ◽

pp. 630

Author(s):

Fumiko Hayashi ◽

Takashi Kido ◽

Noriho Sakamoto ◽

Yoshiaki Zaizen ◽

Mutsumi Ozasa ◽

...

Keyword(s):

Chest Radiography ◽

Analytical Electron Microscopy ◽

Clinical Manifestations ◽

Dust Exposure ◽

Dust Deposition ◽

High Resolution Computed Tomography ◽

Case Presentation ◽

Old Japanese ◽

History Of ◽

Beryllium Disease

Background: Chronic beryllium disease (CBD) is a granulomatous disease that resembles sarcoidosis but is caused by beryllium. Clinical manifestations similar to those observed in CBD have occasionally been reported in exposure to dusts of other metals. However, reports describing the clinical, radiographic, and pathological findings in conditions other than beryllium-induced granulomatous lung diseases, and detailed information on mineralogical analyses of metal dusts, are limited. Case presentation: A 51-year-old Japanese man with rapidly progressing nodular shadows on chest radiography, and a 10-year occupation history of underground construction without beryllium exposure, was referred to our hospital. High-resolution computed tomography showed well-defined multiple centrilobular and perilobular nodules, and thickening of the intralobular septa in the middle and lower zones of both lungs. No extrathoracic manifestations were observed. Pathologically, the lung specimens showed 5–12 mm nodules with dust deposition and several non-necrotizing granulomas along the lymphatic routes. X-ray analytical electron microscopy of the same specimens revealed aluminum, iron, titanium, and silica deposition in the lung tissues. The patient stopped smoking and changed his occupation to avoid further dust exposure; the chest radiography shadows decreased 5 years later. Conclusion: The radiological appearances of CBD and sarcoidosis are similar, although mediastinal or hilar lymphadenopathy is less common in CBD and is usually seen in the presence of parenchymal opacities. Extrathoracic manifestations are also rare. Despite limited evidence, these findings are similar to those observed in pneumoconiosis with a sarcoid-like reaction due to exposure to dust other than of beryllium. Aluminum is frequently detected in patients with pneumoconiosis with a sarcoid-like reaction and is listed as an inorganic agent in the etiology of sarcoidosis. It was also detected in our patient and may have contributed to the etiology. Additionally, our case suggests that cessation of dust exposure may contribute to improvement under the aforementioned conditions.

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

Bangladesh Journal of Child Health ◽

10.3329/bjch.v39i1.28355 ◽

2016 ◽

Vol 39 (1) ◽

pp. 24-29 ◽

Cited By ~ 1

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

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Methemoglobinaemia in Diabetic Ketoacidosis Patient

New Emirates Medical Journal ◽

10.2174/03666211227181618 ◽

2021 ◽

Vol 03 ◽

Author(s):

Magdy Mohamed ◽

Nadem Javed

Keyword(s):

Ascorbic Acid ◽

Family History ◽

Diabetic Ketoacidosis ◽

G6pd Deficiency ◽

Genetic Disorder ◽

Red Blood Cell Transfusion ◽

Case Presentation ◽

History Of ◽

Insulin Dependent ◽

Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked genetic disorder. Case Presentation: In this paper, we report a case of a 41-years-old male patient with non-insulin-dependent diabetes and a family history of G6PD deficiency never known to have any previous hemolytic episodes, presented as a case of diabetic ketoacidosis with features of hemolytic anemia due to G6PD deficiency manifesting as methemoglobinemia and anemia. Conclusion: Our patient successfully managed with ascorbic acid and red blood cell transfusion. Clinicians should, therefore, be aware of the possibility of this uncommon association between diabetic ketoacidosis, G6PD deficiency, and methemoglobinemia which may be present in patients with G6PD deficiency and severe hemolysis.

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Struma ovarii and peritoneal strumosis during pregnancy

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-03815-4 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Zheng Li ◽

Jingxue Wang ◽

Qian Chen

Keyword(s):

Caesarean Section ◽

Clinical Presentation ◽

Complete Resection ◽

Struma Ovarii ◽

Thyroid Follicle ◽

Case Presentation ◽

Pelvic Masses ◽

History Of ◽

The Masses ◽

Ovarian Dermoid Cyst

Abstract Background Struma ovarii is a special type of ovarian dermoid cyst and accounts for approximately 2–3 % of all dermoid tumours. Benign struma ovarii may manifest as distant metastasis, called peritoneal strumosis, which makes it biologically similar to malignancy, and has been reported in limited cases but never discovered during pregnancy. Case presentation We report a patient with a history of right struma ovarii cystectomy. During pregnancy, pelvic masses with non-specific clinical presentation were found again. During the caesarean section, contralateral struma ovarii with dissemination of nodules in the peritoneal cavity was found, and pathology revealed that the masses were thyroid follicle ovarian goitres. Discussion and conclusions Recurrent benign struma ovarii with extraovarian dissemination is a rare aggressive clinical manifestation different from malignancy. It is emphasized that adequate assessment and complete resection of suspicious masses are of great importance.

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Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

Journal of Clinical Case Reports and Studies ◽

10.31579/2690-8808/066 ◽

2021 ◽

Vol 2 (3) ◽

pp. 01-02

Author(s):

Alvaro E. Galvis ◽

Beatrice Batoczki ◽

Iris S. Pecson ◽

Evan Vidal ◽

Craig T. Nakamura

Keyword(s):

Genetic Testing ◽

Pediatric Patient ◽

Hereditary Hemorrhagic Telangiectasia ◽

Autosomal Dominant ◽

Wide Spectrum ◽

Clinical Manifestations ◽

Autosomal Dominant Disorder ◽

Case Presentation ◽

History Of ◽

Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

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The World Largest Focus of the Opisthorchiasis in the Ob-Irtysh Basin, Russia, Caused by Opisthorchis felineus

10.5772/intechopen.91634 ◽

2020 ◽

Author(s):

Anastasia V. Simakova ◽

Natalya V. Poltoratskaya ◽

Irina B. Babkina ◽

Tatyana N. Poltoratskaya ◽

Alexander V. Shikhin ◽

...

Keyword(s):

Life Cycle ◽

Social Factors ◽

Social Groups ◽

Clinical Manifestations ◽

Intermediate Hosts ◽

Opisthorchis Felineus ◽

The People ◽

The World ◽

Irtysh Basin ◽

History Of

The world’s largest focus of opisthorchiasis caused by cat fluke Opisthorchis felineus Rivolta, 1884, is associated with the Ob-Irtysh basin (Russia). The chapter provides data on the history of discovery and the study of opisthorchiasis. Features of the morphology and life cycle of O. felineus are described. Data on the infection of intermediate hosts (mollusks and cyprinids fish) are provided. Species of fish that have important epizootological significance are indicated. The incidence of opisthorchiasis in the people of different age and social groups, clinical manifestations, pathogenesis, and complications is discussed. The climatic and social factors that contribute to maintaining the focus of opisthorchiasis are described. The measures of personal and social prevention of the people are given.

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