scholarly journals Severe Hemolytic Anemia Due to De novo Hemoglobin Sabine in an Argentinian Newborn. First Case in South America

2015 ◽  
Vol 3 (4) ◽  
pp. 166-170 ◽  
Author(s):  
Susana Perez ◽  
Irma Bragós ◽  
Mariana Raviola ◽  
Arianna Pratti ◽  
Germán Detarsio ◽  
...  
Keyword(s):  
South America ◽  
Hemolytic Anemia ◽  
De Novo ◽  
First Case

scholarly journals The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review

2021 ◽  
Author(s):  
Linet Njue ◽  
Cesare Medri ◽  
Peter Keller ◽  
Miriam Diepold ◽  
Behrouz Mansouri Taleghani ◽  
...  
Keyword(s):  
Literature Review ◽  
Hemolytic Anemia ◽  
De Novo ◽  
Clinical History ◽  
Molecular Techniques ◽  
De Novo Mutation ◽  
First Case ◽  
History Of ◽  
Transfusion Dependency ◽  
Unstable Hemoglobin

AbstractHb Mizuho is a very rare unstable hemoglobin; here, we describe the clinical history of three Swiss family members with Hb Mizuho together with a systematic review of the previously six published cases. The clinical history of the adult woman we report here is unique since this is the first Hb Mizuho presenting with Moyamoya complications and the first case reported with long-term erythrocyte exchange. The literature review showed that Hb Mizuho was mainly reported as a de novo mutation, with the exception of children descended from known cases. All published patients with this unstable hemoglobin showed severe hemolytic anemia with the exception of one; all were regularly transfused. Patients with higher HbF levels might require fewer transfusions. All patients underwent splenectomy at a median age of 4 years and had variable clinical improvement; some achieved complete resolution of transfusion dependency after splenectomy. Iron overload in Hb Mizuho patients seems to be mainly attributed to transfusions and has less to do with ineffective erythropoiesis. Diagnosis might be challenging; a normal hemoglobin electrophoresis should not rule out the diagnosis of unstable hemoglobin in patients with otherwise unexplained hemolytic anemia. This series shows the enormous utility of using molecular techniques for diagnosis.

scholarly journals Endovascular repair of de novo post-stenotic aortic coarctation aneurysms with complex collateral supply: two cases with long and medium term follow-up

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Omar Abdel-Hadi ◽  
John Thomson ◽  
Simon J. McPherson
Keyword(s):  
Stent Graft ◽  
Endovascular Repair ◽  
Aortic Coarctation ◽  
De Novo ◽  
Aortic Aneurysms ◽  
Medium Term ◽  
First Case ◽  
Case Presentations ◽  
Selective Embolisation

Abstract Purpose To report the technical details and outcomes of the endovascular repair of two cases of de novo post-stenotic aortic coarctation aneurysms complicated by complex collateral supply. Case presentations Two patients with thoracic aortic aneurysms complicated by complex aneurysm sac collaterals distal to a previously untreated thoracic aortic coarctation have been treated at our institution. Open surgical intervention was deemed to carry a high risk of haemorrhage due to the degree and complexity of arterial collateralisation. In the first case, selective embolisation of collateral vasculature was performed prior to successful exclusion of the aneurysm with a thoracic endovascular stent-graft and then balloon-expandable stent dilatation of the coarctation stenosis. In the second case, the additional technique of using a jailed sheath within the aneurysm sac allowed for selective embolisation of previously inconspicuous collaterals after deployment of the stent-graft and stent combination. Results Technical success was achieved in both patients with successful occlusion of the aneurysm, with no recorded complications or aneurysm sac perfusion in the long and medium term follow up periods respectively. Conclusion De novo post stenotic aortic coarctation aneurysms are rare. Endovascular repair is a safe and durable technique that provides a less invasive alternative to open surgical repair. The use of a jailed sheath allows for complete selective embolisation of complex collaterals avoiding a type II aneurysm endoleak.

scholarly journals Pustular Rash in Crohn’s Patient on Ustekinumab Raises Concern for Drug-Induced Paradoxical Psoriasis

2021 ◽  
pp. 662-666
Author(s):  
Mitra Barahimi ◽  
Scott Lee ◽  
Kindra Clark-Snustad
Keyword(s):  
Side Effect ◽  
De Novo ◽  
Pustular Psoriasis ◽  
Initial Weight ◽  
Drug Induced ◽  
Clinical Recurrence ◽  
Potential Side Effect ◽  
First Case ◽  
Tnf Antagonist ◽  
Subcorneal Pustular Dermatosis

We report the case of a 51-year-old male with Crohn’s disease (CD) who developed a reproducible pustular rash after ustekinumab (UST) administration. The patient first presented with a pustular rash on his hands, body, extremities, and scalp starting 5 weeks after his initial weight-based UST induction. The rash resolved spontaneously, then recurred 4 weeks after his first subcutaneous maintenance dose of UST 90 mg. Biopsy of the affected area demonstrated subcorneal pustular dermatosis (SPD). UST was discontinued and the rash resolved. Unfortunately, the patient experienced clinical recurrence of CD, and given prior failure of multiple CD medications, UST was restarted with premedication. Two weeks after UST re-induction, the rash recurred, though less severe. Given improvement in CD symptoms, UST was continued and the rash managed with topical corticosteroids. This is the first case of drug-induced SPD associated with UST. One case report has previously described de novo pustular psoriasis associated with UST in a patient with CD and enteropathic arthritis. Notably, SPD and pustular psoriasis can be histologically indistinguishable. The development of a paradoxical psoriasiform rash is thought to be one of the few dose and duration dependent side effects of TNF-antagonist therapy but has not previously been established as a side effect of UST. This case demonstrates a new potential side effect of UST.

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ji Hong Park ◽  
Ji Hyun Kim ◽  
Yo Han Ahn ◽  
Hee Gyung Kang ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Short Stature ◽  
De Novo ◽  
Plasma Renin ◽  
Endocrine Function ◽  
First Case ◽  
Pseudohypoaldosteronism Type Ii ◽  
Stimulation Tests ◽  
Severity Of The Disease ◽  
Potassium Gradient

Abstract Objectives: Gordon syndrome (GS), also known as pseudohypoaldosteronism type II, is a rare tubular disease characterized by hypertension, hyperkalemia, and metabolic acidosis. Its causative genes are CUL3, KLHL3, WNK1, and WNK4, and they are associated with varying severity of the disease. Herein, we report the first case of GS caused by a CUL3 mutation in a patient with short stature in Korea.Case presentation: A 7-year-old boy had hypertension, metabolic acidosis, and persistent hyperkalemia, which were initially detected during the evaluation of short stature. He was born small for gestational age at late preterm gestation. Laboratory test findings showed hyperkalemia with low trans-tubular potassium gradient, hyperchloremic metabolic acidosis with a normal anion gap, and low plasma renin levels. Genetic analysis revealed a heterozygous de novo mutation in the CUL3 gene (c.1377+1G > C in intron 9). Thus, a diagnosis of GS was made. The results of the endocrine function test (including growth hormone stimulation tests) were normal. After thiazide treatment, the patient’s electrolyte levels were normalized. However, he presented with persistent hypertension and short stature.Conclusions: GS should be considered in children with short stature, hypertension, and hyperkalemia, and early treatment may reduce complications.

scholarly journals Unusual combination and existence of hemolytic anemias; Thalassemia and G6PD deficient anemia in female patient

2018 ◽  
Vol 6 (4) ◽  
pp. 308-314
Author(s):  
Abdulhamza Rajooj Hmood ◽  
Rawaa Hatif Abd
Keyword(s):  
Hemolytic Anemia ◽  
Broad Bean ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Ineffective Erythropoiesis ◽  
Acid Therapy ◽  
First Case ◽  
Unusual Combination ◽  
Appropriate Therapy ◽  
Carrier Diagnosis

Beta-thalassemia intermedia exhibits feature of ineffective erythropoiesis and hemolytic anemia. Diagnosis can be made via hemoglobin electrophoresis. G6PD deficiency is an X-linked recessive disorder commonly affecting males while females are carrier. Diagnosis is made by measuring G6PD level. A 19-year old pregnant lady, known case of β-thalassemia intermedia, had been presented with episode of acute hemolytic anemia. Investigations were highly suggestive of G6PD deficient anemia. This was confirmed with low G6PD level. Back to her immediate history, consumption of broad bean was ascertained. After appropriate therapy, the patient felt better and her medical derangement was normalized. She delivered normally and kept on life-long folic acid therapy. The importance of recording such a case report is to expect unusual combination of hemolytic anemia despite the uncommon finding of X-linked recessive disorder in women. This was the first case recorded in Karbala province

scholarly journals Intravitreal Angiostrongylus cantonensis: first case report in South America

2018 ◽  
Vol 81 (1) ◽  
Author(s):  
Gabriel Costa de Andrade ◽  
João Rafael de Oliveira Dias ◽  
André Maia ◽  
Liliane de Almeida Kanecadan ◽  
Nilva Simeren Bueno Moraes ◽  
...  
Keyword(s):  
Case Report ◽  
South America ◽  
Angiostrongylus Cantonensis ◽  
First Case

scholarly journals MED13L-related intellectual disability due to paternal germinal mosaicism

2021 ◽  
pp. mcs.a006124
Author(s):  
Beata Bessenyei ◽  
Istvan Balogh ◽  
Attila Mokanszki ◽  
Aniko Ujfalusi ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Mediator Complex ◽  
Facial Dysmorphism ◽  
Facial Features ◽  
Speech Delay ◽  
Motor Delay ◽  
First Case ◽  
Intragenic Deletion ◽  
Germinal Mosaicism

The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common form of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share overlapping features comprising intellectual disability, hypotonia, motor delay, remarkable speech delay, and a recognizable facial gestalt. De novo disruption of the MED13L gene by deletions, duplications or sequence variants has been identified deleterious. Siblings affected by intragenic deletion transmitted from a mosaic parent have been reported once in the literature. We now present the first case of paternal germinal mosaicism for a missense MED13L variant causing MRFACD syndrome in one of the father's children and be the likely cause of intellectual disability and facial dysmorphism in the other. As part of the Mediator complex, the MED proteins have an essential role in regulating transcription. 32 subunits of the Mediator complex genes have been linked to congenital malformations that are now acknowledged as transcriptomopathies. The MRFACD syndrome has been suggested to represent a recognizable phenotype.

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

2011 ◽  
Vol 155 (12) ◽  
pp. 3054-3059 ◽  
Author(s):  
Maria Piccione ◽  
Davide Vecchio ◽  
Simona Cavani ◽  
Michela Malacarne ◽  
Mauro Pierluigi ◽  
...  
Keyword(s):  
De Novo ◽  
Myoclonic Epilepsy ◽  
First Case ◽  
22Q11.2 Microduplication

Dysgenesis and dysfunction of pancreas and pituitary due to FOXA2 gene defects

2021 ◽  
Author(s):  
Sare Betul Kaygusuz ◽  
Esra Arslan Ates ◽  
Maria Lillina Vignola ◽  
Burcu Volkan ◽  
Bilgen Bilge Geckinli ◽  
...  
Keyword(s):  
Transcriptional Activation ◽  
Developmental Disorders ◽  
De Novo ◽  
Luciferase Reporter ◽  
Forkhead Box ◽  
First Case ◽  
The Central Nervous System ◽  
Gene Defects ◽  
Congenital Hypopituitarism ◽  
Pancreatic Hypoplasia

Abstract Context Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extra-pituitary abnormalities (syndromic hypopituitarism). A large number of syndromic hypopituitarism cases are linked to mutations in transcription factors. The Forkhead box A2 (FOXA2) is a transcription factor that plays a key role in the central nervous system, foregut and pancreatic development. Objective To characterize two patients with syndromic hypopituitarism due to FOXA2 gene defects. Results We report a novel heterozygous nonsense c.616C>T (p.Q206X) variant, which leads to a truncated protein that lacks part of the DNA-binding domain of FOXA2, resulting in impaired transcriptional activation of the GLUT2-luciferase reporter. The patient is the sixth patient described in the literature with a FOXA2 mutation, and the first patient exhibiting pancreatic hypoplasia. We also report a second patient with a novel de novo 8.53 megabase (Mb) deletion of 20p11.2 that encompasses FOXA2, who developed diabetes mellitus that responded to sulfonylurea treatment. Conclusions Our two cases broaden the molecular and clinical spectrum of FOXA2-related disease, reporting the first nonsense mutation and the first case of pancreatic dysgenesis.

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