DNAJC21-related thrombocytopenia in a young adult female.

Bone marrow failure type 3 (BMFS3) (MIM:617052) is a subtype of inherited bone marrow failure syndromes (IBMFS) caused by homozygous pathogenic variants in DNAJC21. It was first defined in 2016, and to date, 19 patients have been reported. Here we report the first adult patient; a 20-year-old female with a novel frameshift variant in DNAJC21 presents with thrombocytopenia, dysmorphic findings, and ovarian agenesis.

Is Hemoglobin D Trait Hematologically Silent: Comparison With Healthy Controls and β-thalassemia Carriers.

Hemoglobin D-Los Angeles, a recessively inherited hemoglobin variant, has been introduced as hematologically silent in the heterozygous state. However, as its compound heterozygosity with other hemoglobinopathies may lead to a severe clinical phenotype, with hemoglobin S being the most serious, the detection of carriers is important. To clarify the hematologic picture, we assessed erythrocyte parameters in D carriers and compared values in healthy controls and β-thalassemia carriers.

Elevated serum ferritin level with cataract of spectacular morphology: Hyperferritinemia-cataract syndrome.

Hyperferritinemia-cataract syndrome, characterized by high serum ferritin concentration and cataracts in early life, remains a less-known rare disease, with fewer than 100 families reported worldwide. Though benign, high ferritin levels frequently result in misdiagnosis with iron storage disease, and patients can be exposed to unnecessary, even invasive, evaluation and treatment procedures. The presence of cataract together with isolated serum ferritin elevation should alert clinicians to consider this syndrome.

It is all in the bag: collodion bag versus HistoGel cell block method.

Introduction: We performed a comparison of cell blocks prepared with the collodion bag and HistoGel to evaluate the ease of embedding and cutting, performance with low cellularity specimens, time and cost per specimen, and value to support immunohistochemistry and molecular diagnostics.

Materials And Methods: We processed 11 fresh, unfixed effusions using both the collodion bag and the HistoGel cell block preparation methods. Six immunohistochemistry stains were tested on 2 of the body fluids.

Detection of bla and clonal relationship in carbapenem resistant K. pneumoniae isolates at a tertiary care center in Western Turkey.

Background: Klebsiella pneumoniae is an important nosocomial pathogen that can lead to high morbidity and mortality. ESBL and carbapenamase producing strains may cause epidemic situations. The aim of our study was to investigate the molecular epidemiology and clonal relationship between carbapenem resistant K.

Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.

Congenital hypotransferrinemia (OMIM 209300) is an extremely rare disorder of inherited iron metabolism. Since its description in 1961, only 16 cases have been reported. The defective gene and molecular defect causing this disorder and clinicolaboratory findings seen in the homozygous and heterozygous states have been documented in both humans and mice.

Fanconi Anemia: A Rarely Considered Cause of Macrocytosis During Childhood.

We describe a Turkish boy newly diagnosed with Fanconi anemia with mutation in the FANCA gene. The patient, with normal clinical phenotype and negative chromosomal breakage test result, presented with macrocytosis. No clinical or laboratory changes were observed in a follow-up period of 4 years.

Recessive congenital methemoglobinemia in immediate generations.

We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.

Maternal serum alpha-fetoprotein levels are normal in Fanconi anemia: Can it be a lack of postnatal inhibition of AFP gene resulting in the elevation?

We investigated the feasibility of using serum alpha-fetoprotein (AFP) levels as a screening test for prenatal diagnosis of Fanconi anemia (FA). Serial measurements in maternal serum were recorded. Parents, both heterozygous for FA, had declined prenatal molecular testing.

Harris Platelet Syndrome in Patients of Non-Indian Origin.

Inherited giant platelet disorders are a subgroup of congenital thrombocytopenias characterized by decreased platelet counts along with macroplatelets and variable bleeding symptoms. Harris platelet syndrome, a newly described rare entity, is a subtype of inherited giant platelet disorders and is characterized by mild-to-severe thrombocytopenia, macroplatelets, and no bleeding manifestations. This entity was observed incidentally in healthy blood donors from India in the early 2000s, and the reported cases to date have without exception originated from the same region of the Indian subcontinent.

"Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A.

One of the most common silent β-thalassemia mutations is the C > T substitution at position -101 within the distal CACCC box, which leads to a mild reduction in the expression level of the β-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and borderline hemoglobin A2 values, and may be missed during screening. Co-occurrence of this mutation with one of the classical β-thalassemia mutations leads to β-thalassemia intermedia, and this is important for Mediterranean populations where β-thalassemia is frequent.

Molecular diagnosis of Fanconi anemia with next-generation sequencing in a case with subtle signs and a negative chromosomal breakage test.

Fanconi anemia (FA) is an inherited disorder characterized by malformations, marrow failure, and predisposition to cancer. Birth defects and laboratory features are characteristic and helpful in diagnosis, when present. Chromosome fragility is pathognomonic in the diagnosis.

Association of vitiligo and response in patients with metastatic malignant melanoma on temozolomide.

Vitiligo-like lesions, although rare, are believed to be a prognostic factor in malignant melanoma. While a predictive role for such lesions was shown with immunomodulatory therapies, this relation was not demonstrated with temozolomide. We present 3 patients with metastatic malignant melanoma who developed vitiligo-like skin lesions accompanying good response to treatment and prolonged survival.

The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?

The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance.

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst.

Survival outcomes of liver metastasectomy in colorectal cancer cases: a single-center analysis in Turkey.

Background: The purpose of this study was to analyze our series of liver resections for metastatic colorectal carcinoma (mCRC) to determine prognostic factors affecting survival and to evaluate the potential roles of neoadjuvant or adjuvant chemotherapy.

Materials And Methods: Ninety-nine patients who underwent metastasectomy for liver metastases due to colorectal cancer at the Department of Medical Oncology, 9 Eylul University Hospital between 1996 and 2010 were evaluated in this study. The patients were followed through July 2013.

Leukopenia in familial Mediterranean fever: case series and literature review with special emphasis on pathogenesis.

Leukopenia is a blood disease in which the number of circulating white blood cells diminishes. All underlying causes of leukopenia are not yet known. The subjects of this study are 15 leukopenic patients who were assessed by a systemic workup, including physical examination, blood tests, and molecular analysis.