scholarly journals Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients

2020 ◽  
Vol 48 (11) ◽  
pp. 030006052096782
Author(s):  
Danqing Qin ◽  
Li Du ◽  
Jicheng Wang ◽  
Cuize Yao ◽  
Hao Guo ◽  
...  
Keyword(s):  
Case Report ◽  
Sanger Sequencing ◽  
Southeast Asian ◽  
Compound Heterozygosity ◽  
Hemoglobin Variant ◽  
Laboratory Findings ◽  
Suspension Array ◽  
Hba1 C ◽  
Hb Variant ◽  
Compound Heterozygotes

We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- - SEA/) α-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as α-thalassemia traits, and capillary electrophoresis suggested an abnormal peak that was incompletely separated from the Hb A peak. A suspension array system and Sanger sequencing were used to characterize the genotypes. Sanger sequencing confirmed the presence of Hb Broomhill [α114(GH2)Pro→Ala; HBA1: c.343C>G]. Eventually, both cases were accurately diagnosed as compound heterozygotes for Hb Broomhill and the (- - SEA/) α-thalassemia deletion, which is the first known report of these variants. This information will be useful when providing appropriate genetic counselling and prenatal diagnosis.

scholarly journals An incidental case of biliary fascioliasis with subtle clinical findings: US and MRCP findings

2013 ◽  
Vol 47 (2) ◽  
pp. 125-127
Author(s):  
Hakan Önder ◽  
Faysal Ekici ◽  
Emin Adin ◽  
Suzan Kuday ◽  
Hatice Gümüş ◽  
...  
Keyword(s):  
Case Report ◽  
Bile Duct ◽  
Magnetic Resonance ◽  
Biliary Obstruction ◽  
Fasciola Hepatica ◽  
Magnetic Resonance Cholangiopancreatography ◽  
Clinical Findings ◽  
Imaging Studies ◽  
Laboratory Findings ◽  
Acoustic Shadow

Background. Fascioliasis is a disease caused by the trematode Fasciola hepatica. Cholangitis is a common clinical manifestation. Although fascioliasis may show various radiological and clinical features, cases without biliary dilatation are rare. Case report. We present unique ultrasound (US) and magnetic resonance cholangiopancreatography (MRCP) findings of a biliary fascioliasis case which doesn’t have biliary obstruction or cholestasis. Radiologically, curvilinear parasites compatible with juvenile and mature Fasciola hepatica within the gallbladder and common bile duct were found. The parasites appear as bright echogenic structures with no acoustic shadow on US and hypo-intense curvilinear lesions on T2 weighted MRCP images. Conclusions. Imaging studies may significantly contribute to the diagnosis of patients with subtle clinical and laboratory findings, particularly in endemic regions.

A Case Report of Ascariasis of the Common Bile Duct in a Patient Who Had Undergone Cholecystectomy

2000 ◽  
Vol 124 (8) ◽  
pp. 1231-1232
Author(s):  
Glenda Amog ◽  
Jeffrey Lichtenstein ◽  
Steven Sieber ◽  
Hani El-Fanek
Keyword(s):  
Case Report ◽  
Bile Duct ◽  
Common Bile Duct ◽  
Epigastric Pain ◽  
Pancreatic Neoplasm ◽  
Ultrasound Finding ◽  
Laboratory Findings ◽  
Live Worm ◽  
Endoscopic Extraction ◽  
The Common

Abstract This is a case report of ascariasis of the common bile duct in a 65-year-old man from Colombia who had undergone prior cholecystectomy. The patient presented with postprandial epigastric pain and a 20-lb weight loss. The laboratory findings were remarkable for peripheral blood eosinophilia. The ultrasound finding was suggestive of periampullary or pancreatic neoplasm. He underwent endoscopic retrograde cholangiopancreatography with endoscopic extraction of a motile, live worm identified as Ascaris lumbricoides. Roundworm infestation should always be suspected in immigrants from endemic areas who present with hepatobiliary symptoms.

scholarly journals Case report: a 5-year-old with new onset nephrotic syndrome in the setting of COVID-19 infection

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Kelsi M. Morgan ◽  
Peace D. Imani
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Pediatric Patient ◽  
Corticosteroid Therapy ◽  
Clinical Remission ◽  
Laboratory Findings ◽  
Case Presentation ◽  
The Third ◽  
First Case ◽  
New Onset

Abstract Background This is a case report of an asymptomatic SARS-CoV-2 infection associated with new-onset nephrotic syndrome in a pediatric patient. This is the third case of new-onset nephrotic syndrome in children associated with SARS-CoV-2 infection, but is the first case report describing a new-onset nephrotic syndrome presentation in a patient who had asymptomatic COVID-19 infection. Case presentation This is a case of a previously healthy 5 year old female who presented with new-onset nephrotic syndrome in the setting of an asymptomatic COVID-19 infection. She presented with progressive edema, and laboratory findings were significant for proteinuria and hypercholesterolemia. She was treated with albumin, diuretics, and corticosteroid therapy, and achieved clinical remission of her nephrotic syndrome within 3 weeks of treatment. Though she was at risk of hypercoagulability due to her COVID-19 infection and nephrotic syndrome, she was not treated with anticoagulation, and did not develop any thrombotic events. Conclusions Our case report indicates that SARS-CoV-2 infection could be a trigger for nephrotic syndrome, even in the absence of overt COVID-19 symptoms.

scholarly journals A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

2015 ◽  
Vol 26 (1) ◽  
pp. 31-34
Author(s):  
Syed Nesar Ahmed ◽  
Md Abu Shahin ◽  
Romal Chowdhury ◽  
Alamgir Mustak Ahammad ◽  
Md Nahiduzzaman Shazzad ◽  
...  
Keyword(s):  
Case Report ◽  
Retinitis Pigmentosa ◽  
Rare Disease ◽  
Clinical Features ◽  
Night Blindness ◽  
Learning Difficulties ◽  
Laboratory Findings ◽  
Bardet Biedl Syndrome

Bardet Biedl syndrome is a rare disease. A case report is presented here where a 13 years old girl presented with obesity, night blindness, learning difficulties and polydactyly. Obesity and night blindness started from since childhood. Her milestones of development were normal but having some learning difficulties. Her parents are healthy as well as her siblings. On examination she looks apathy, extreme obese, having polydactyly and retinitis pigmentosa and high B.P. On laboratory findings there is only dyslipidaemia. On the basis of clinical features she was diagnosed as a case of Bardet-Biedl syndrome.Bangladesh J Medicine Jan 2015; 26 (1) : 31-34

scholarly journals A Traumatic Tick Bite: A Case Report

2021 ◽  
Vol 2 (5) ◽  
pp. 210-213
Author(s):  
Daniel Finnin ◽  
Christopher Hanowitz
Keyword(s):  
Case Report ◽  
Symptomatic Improvement ◽  
Tick Bite ◽  
Facial Trauma ◽  
Laboratory Findings ◽  
Human Granulocytic Anaplasmosis ◽  
Presenting Symptoms ◽  
Granulocytic Anaplasmosis ◽  
Prophylactic Dose ◽  
Tick Borne Disease

Introduction: Human granulocytic anaplasmosis is a tick-borne disease with an increasing incidence associated with morbidity and mortality. Uncertainty remains whether a prophylactic dose of doxycycline is effective in prevention. Case Report: We present a case of an 80-year-old female with syncope, resultant facial trauma, and fever two weeks after a tick bite for which she received prophylaxis. Workup revealed anaplasmosis, and treatment led to symptomatic improvement. Conclusion: We review the presenting symptoms, laboratory findings, and treatment of anaplasmosis, as well as give caution about the limitations in prescribing a prophylactic dose of doxycycline following a tick bite.

scholarly journals A case report of DOPA-responsive dystonia in a young woman

2020 ◽  
pp. 45-48
Author(s):  
NA Belykh ◽  
MA Akhkyamova ◽  
VV Gusev ◽  
OA Lvova
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Genetic Predisposition ◽  
Emergency Treatment ◽  
Sanger Sequencing ◽  
Clinical Case ◽  
Young Female ◽  
Considerable Improvement ◽  
The Right ◽  
Pediatric Onset

Dopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy.

Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain

Hemoglobin ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 206-208 ◽  
Author(s):  
An-Ping Xu ◽  
Jie Li ◽  
Wei-Dong Chen ◽  
Yu Zhou ◽  
Ling Ji
Keyword(s):  
Globin Chain ◽  
Hemoglobin Variant ◽  
Hba1 C

Malignant Clinical Course of Histologically Benign Ovarian Struma: case report and literature review

2021 ◽  
Author(s):  
Aleksandra Asaturova ◽  
A. Magnaeva ◽  
A. Tregubova ◽  
V. Kometova ◽  
E. Karamurzin ◽  
...  
Keyword(s):  
Case Report ◽  
Ovarian Tumor ◽  
Clinical Course ◽  
Mature Teratoma ◽  
Thyroid Tissue ◽  
Follicular Carcinoma ◽  
Struma Ovarii ◽  
Diagnostic Challenge ◽  
Laboratory Findings ◽  
Metastatic Lesions

Abstract BackgroundStruma ovarii is a variant of monodermal teratoma, consisting of morphologically benign, atypical, or frankly malignant thyroid tissue. Morphologic features may or may not correlate with biologic behavior. Albeit this case report is not unique, ovarian tumor developed with peritoneal dissemination and bone metastasis, which is highly unlikely clinical complication. Additionally, we summarized previously cases of struma ovarii with an emphasis on correlation between morphological appearances, clinical course and providing treatment. Case presentationWe present the 38-year-old patient who was hospitalized for ovarian tumor. The diagnostic laparoscopy revealed lesions of peritoneum, sigmoid serosa and omentum and left ovarian mass. We diagnosed left ovarian mature teratoma without struma tissue and metastatic lesions with struma morphology which can be related to her history of left ovarian struma in 2016. Taking into account the metastatic lesions revealed in 2020, the tumor removed in 2016 was assessed as highly differentiated follicular carcinoma arising in struma ovarii. ConclusionsPrediction of biologic behavior of struma ovarii is still to be to diagnostic challenge, therefore multidisciplinary approach including clinical a n d laboratory findings, radiologic details and histopathological features is required. Providing additional data, the present case report contributes to expending the knowledge of these peculiar neoplasms.

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