scholarly journals Foetal phenotype of Maat-Kievit-Brunner type Ohdo syndrome

2021 ◽  
Vol 3 (8) ◽  
pp. 01-07
Author(s):  
Gupta Ashutosh ◽  
Aneja Anjila ◽  
Bahl Neena ◽  
Arora Rupam ◽  
Sehgal Renu Raina ◽  
...  
Keyword(s):  
Rna Polymerase Ii ◽  
Clinical Presentation ◽  
Mutational Analysis ◽  
Rare Condition ◽  
Ambiguous Genitalia ◽  
Joint Hypermobility ◽  
Provisional Diagnosis ◽  
First Case ◽  
Development And Differentiation ◽  
Callosal Dysgenesis

MED12 is a member of large Mediator complex; has a very crucial and central role in RNA polymerase II transcription; regulating cell signals involved in growth, development and differentiation. Different MED12 mutations may have different clinical presentation representing an allelic disorder. Maat-Kievit-Brunner (MKB) type Ohdo syndrome; has a typical facial features comprising of blepharophimosis, ptosis, long flat philtrum with thin vermilion, micrognathia with microstomia, scrotal hypoplasia with cryptorchidism, joint hypermobility with clinodactyly with overriding toes, A primigravida on antenatal ultrasound was detected to have growth restriction, corpus callosal dysgenesis, syndactyly and suspected ambiguous genitalia. Invasive testing and exome sequencing revealed hg19chrX:MED12:c.2315A>G: (p.Lys772Arg);MED12(NM_005120.3):c.2315A>G: (p.Lys772Arg) leading to provisional diagnosis of X linked Ohdo syndrome with an overlap with FG. Missense mutation was classified to be PM2; PP3 (ACMG) Clinical presentation, phenotype and mutational analysis led to provisional diagnosis of X linked Ohdo syndrome. Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition and this is probably the first case describing foetal phenotype of MKB type of Ohdo syndrome.

scholarly journals Hysteroscopic Findings Related with the Assessment and Treatment of Uterine Florid Cystic Endosalpingiosis: A Case Report and Review of All the Published Cases

2020 ◽  
Vol 33 (13) ◽  
Author(s):  
Catarina Peixinho ◽  
Raquel Machado-Neves ◽  
Pedro Tiago Silva ◽  
João Bernardes ◽  
Ana Catarina Silva ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Polypoid Lesion ◽  
Pelvic Mass ◽  
Rare Condition ◽  
Laparoscopic Hysterectomy ◽  
Histopathological Diagnosis ◽  
Benign Condition ◽  
First Case ◽  
Assessment And Treatment ◽  
One Year

Introduction: Endosalpingiosis is a rare benign condition characterized by the presence of tubal epithelium outside the Fallopian tube. The clinical presentation of endosalpingiosis is nonspecific, and the diagnosis is typically incidental in women undergoing surgery for pelvic pain, infertility, urinary symptoms, or a pelvic mass. It can only be confirmed with histopathological examination.Case Report: We report the first case of uterine florid cystic endosalpingiosis, with unusual hysteroscopic findings. We reviewed all the published cases of uterine florid cystic endosalpingiosis and their clinical presentation including hysteroscopic characteristics. It is a rare benign condition, with only 32 cases described in the literature. This is the first hysteroscopic description of this condition to be made.Discussion: The patient first underwent a hysteroscopy and a leiomyoma resection when she was 51 years old. At 55, she went through another hysteroscopy, and a polypoid lesion was excised. A third hysteroscopy, one year later, revealed a new polypoid lesion in a similar location. After the initial incisions, this polypoid lesion disappeared. By decreasing the intrauterine pressure, it became visible again, corresponding histologically to an endometrial polyp with tubal metaplasia. At last, she underwent a laparoscopic hysterectomy with a final histopathological diagnosis of uterine florid cystic endosalpingiosis.Conclusion: Florid cystic endosalpingiosis is a rare condition that may be associated with several bizarre hysteroscopic findings.

Severe Antithrombin III Deficiency in an Infant Associated with Multiple Arterial and Venous Thromboses

1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz
Keyword(s):  
Antithrombin Iii ◽  
Adult Life ◽  
Rare Condition ◽  
Male Infant ◽  
Liver Cells ◽  
Liver Pathology ◽  
Fixed Tissue ◽  
Formalin Fixed Tissue ◽  
First Case ◽  
At Iii

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.

scholarly journals Functional dissection of the catalytic mechanism of mammalian RNA polymerase II

2005 ◽  
Vol 83 (4) ◽  
pp. 497-504 ◽  
Author(s):  
Benoit Coulombe ◽  
Marie-France Langelier
Keyword(s):  
Rna Polymerase ◽  
Rna Polymerase Ii ◽  
Catalytic Mechanism ◽  
Mutational Analysis ◽  
Structural Elements ◽  
Catalytic Mechanisms ◽  
Rnap Ii ◽  
Affinity Peptide

High resolution X-ray crystal structures of multisubunit RNA polymerases (RNAP) have contributed to our understanding of transcriptional mechanisms. They also provided a powerful guide for the design of experiments aimed at further characterizing the molecular stages of the transcription reaction. Our laboratory used tandem-affinity peptide purification in native conditions to isolate human RNAP II variants that had site-specific mutations in structural elements located strategically within the enzyme's catalytic center. Both in vitro and in vivo analyses of these mutants revealed novel features of the catalytic mechanisms involving this enzyme.Key words: RNA polymerase II, transcriptional mechanisms, mutational analysis, mRNA synthesis.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

scholarly journals Fetus in fetu: two case reports from North African country

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Moutaz Ragab ◽  
Omar Nagy Abdelhakeem ◽  
Omar Mansour ◽  
Mai Gad ◽  
Hesham Anwar Hussein
Keyword(s):  
Histopathological Examination ◽  
Case Reports ◽  
Abdominal Mass ◽  
Mature Teratoma ◽  
Surgical Techniques ◽  
Rare Condition ◽  
Mass Effect ◽  
Fetus In Fetu ◽  
Vascular Connection ◽  
First Case

Abstract Background Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally. Case presentation We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis. Conclusions Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

2021 ◽  
pp. 106689692110160
Author(s):  
Mingfei Yan ◽  
Mark Rodgers ◽  
Aparna Harbhajanka ◽  
Hannah Gilmore
Keyword(s):  
Breast Lesion ◽  
Hematologic Malignancy ◽  
Genetic Disorders ◽  
Rare Condition ◽  
Myoepithelial Cells ◽  
Hematological Disorders ◽  
First Case ◽  
Benign Nature ◽  
Extensive Involvement

Breast amyloidosis is a rare condition which is mostly associated with hematological disorders or hereditary genetic disorders. Imaging findings of breast amyloidosis can mimic malignancy, which often leads to biopsy or excision of the lesion. Here, we presented a case of localized lactotransferrin-related breast amyloidosis in an elderly female patient. Histologic examination revealed extensive involvement of breast lobules by amorphous amyloid materials, with attenuation of lobular structures and prominent calcifications. Positive immunostains for myoepithelial cells helped to exclude the possibility of invasive carcinoma. The patient had no hematologic malignancy besides immunoglobulin G lambda monoclonal gammopathy of undetermined significance. Mass spectrometry of the breast amyloid identified lactotransferrin and no immunoglobulin or its light chain. On follow-up, the patient showed no recurrence of the breast lesion after local excision nor showed other systematic comorbidities, indicating the benign nature of the lesion. This first report of lactotransferrin-related amyloidosis may represent a special type of localized breast amyloidosis that has no correlation with systematic disorders.

scholarly journals Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan
Keyword(s):  
Western Europe ◽  
Indian Subcontinent ◽  
Genetic Disorder ◽  
Rare Condition ◽  
Bone Dysplasia ◽  
Feedback Mechanism ◽  
Early Presentation ◽  
First Case ◽  
Cranial Nerve Palsies ◽  
Van Buchem Disease

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

scholarly journals Inflammatory Myofibroblastic Tumor of the Bladder: 2 Rare Cases Managed with Laparoscopic Partial Cystectomy

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Sofia Santos Lopes ◽  
Andrea Furtado ◽  
Rita Oliveira ◽  
Ana Cebola ◽  
Bruno Graça ◽  
...  
Keyword(s):  
Inflammatory Myofibroblastic Tumor ◽  
Clinical Presentation ◽  
Treatment Approach ◽  
Pathological Condition ◽  
Partial Cystectomy ◽  
Pathological Features ◽  
Macroscopic Hematuria ◽  
Voiding Symptoms ◽  
First Case

Two cases of inflammatory myofibroblastic tumor (IMT) of the bladder are reported here. Both patients were male and presented with macroscopic hematuria; in the first case terminal hematuria was associated with irritative voiding symptoms. The second case was a smoker with hematuria unresponsive to medical treatment and anemia. Clinical presentation, pathological features, treatment, and prognosis are discussed. Due to rarity of this pathological condition, there are no guidelines concerning treatment and follow-up. We present our follow-up scheme and highlight the use of laparoscopic partial cystectomy as a successful treatment approach.

A Case of Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Presented With Acute Liver Failure

2022 ◽  
pp. 097321792110688
Author(s):  
Sarah Alpini ◽  
Rasheda J. Vereen ◽  
Amy Quinn
Keyword(s):  
Liver Failure ◽  
Congenital Adrenal Hyperplasia ◽  
Dehydrogenase Deficiency ◽  
Clinical Presentation ◽  
Hydroxysteroid Dehydrogenase ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Adrenal Steroidogenesis ◽  
Recurrent Hypoglycemia ◽  
Deficiency Cases

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal disorders characterized by a variety of defects in adrenal steroidogenesis. Most cases of CAH are due to an enzyme deficiency in either 21-hydroxylase or 11-beta-hydroxylase. A much rarer form of CAH due to 3-betahydroxysteroid dehydrogenase (3B-HSD) deficiency results in impaired synthesis of all steroid hormones. The clinical presentation of undervirilization in 46 XY patients, hyponatremia, hyperkalemia, and recurrent hypoglycemia in 3B-HSD deficiency cases is well described in the literature. We describe a neonate with 3B-HSD deficiency that presented with ambiguous genitalia and hypoglycemia and was found to have comorbid coagulopathy, cholestasis, and direct hyperbilirubinemia with liver failure that resolved with glucocorticoid and mineralocorticoid treatment. Prompt recognition of this disease is imperative for timely intervention.

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