Frameshift Sequence Variants in the Human Lipase‐H Gene Causing Hypotrichosis

Hypotrichosis is a condition of abnormal hair pattern characterized by sparse to absent hair on different parts of the body, including the scalp. The condition is often characterized by tightly curled woolly hairs, discoloration of hair, and development of multiple keratin filled cysts or papules on the body. Sequence analysis of the lipase H (LIPH) gene, mapped on chromosome 3q27.3, led to the identification of a novel frameshift deletion variant (c.932delC, p.Pro311Leufs*3) in one family and previously reported 2‐bp deletion (c.659_660delTA) in five other families, inherited hypotrichosis, and woolly hair in an autosomal recessive pattern. The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype.     

Septic pulmonary emboli caused by a hemodialysis catheter

We present an unusual complication caused by a dialysis catheter inserted through the internal jugular vein into the central venous system. The 49-year-old male patient developed a right atrial thrombus, which became infected with Staphylococcus aureus, resulting in septic pulmonary embolism and septicemic shock. The thrombus was excised on cardiopulmonary bypass. The patient made an uneventful recovery.     

Heterotopic pancreas in the spleen: malignant degeneration to mucinous cystadenocarcinoma

We report the clinicopathological findings of a patient who presented with a primary splenic cystic tumour arising from heterotopic pancreatic tissue. The pancreas was normal on radiological and intraoperative examination. Histological analysis of the specimen demonstrated a mucinous cystadenocarcinoma with remnants of normal pancreatic tissue within the substance of the spleen. Immunohistochemistry characterized the tumour as being pancreatic in origin with overexpression of p53 protein. Five cases of primary mucinous cystadenocarcinoma of the spleen originating from heterotopic pancreatic tissue have been described; to our knowledge, this is the first case to provide conclusive immunohistochemical evidence to support this proposition.     

Ectopic prolactinoma of the sphenoidal sinus: case report

A 34-year-old woman was hospitalized for exploration of amenorrhea and galactorrhea. She had experienced primary sterility, diagnosed 11 years earlier. Endocrine tests demonstrated hyperprolactinemia (serum prolactin 594 ng/ml). Magnetic resonance imaging (MRI) showed a soft tissue mass located within the posterior part of the sphenoidal sinus. The pituitary gland appeared normal. Medical treatment with bromocriptine was unsuccessful. Transsphenoidal tumor resection was performed. Histology reported adenoma, which was consistent with prolactin-producing tumor demonstrated by immunohistochemical staining for prolactin. Because of the persistence of hyperprolactinemia related to an intra-sphenoidal tumor remnant, bromocriptine (15 mg/d) was initiated. Menses ensued and prolactin level declined (49 ng/ml). One year later, the tumor remnant had disappeared on the MRI and the patient became pregnant. Ectopic adenomas of the sphenoidal sinus are of particular interest due to the diagnostic difficulties encountered. Nevertheless, the nature of the lesion can be determined from the endocrine manifestations. Some of these tumors respond to medical treatment, similar to intra sellar tumors. Surgery remains however the only means of obtaining definitive diagnosis and cure.     

Depression and anxiety status of patients with implantable cardioverter defibrillator and precipitating factors

BACKGROUND: Implantable cardioverter defibrillators (ICDs) are life-saving devices in treatment of life-threatening arrhythmia. We evaluate the emotional status of Turkish patients with ICD and try to explain factors that affect emotional status of the patients. METHODS: Ninety-one patients with previously implanted ICD were included in the study. Follow-up periods, presence of ICD shock, shock frequency, time of the recent shock, age, and gender were noted. Depression and anxiety scores were evaluated according to Hospital Anxiety and Depression (HAD) chart. RESULTS: Mean anxiety and depression scores were found as 9.1 +/- 5.3 and 7.2 +/- 5.1, respectively. According to HAD charts, 42 patients (46%) had anxiety and 37 patients (41%) had depression. Depression scores indicated significant difference between subgroups divided on the basis of follow-up periods (P = 0.026) and on the basis of time of recent shock (P = 0.028). There was significant difference in anxiety scores (P = 0.016) between patients with ICD shocks and patients with no shocks. When the patients were divided into subgroups according to shock frequency, both depression (P = 0.024) and anxiety (P = 0.016) scores presented significant difference. In female patients, depression and anxiety scores were found significantly higher compared to male patients (P = 0.046 and P = 0.016, respectively). In multivariate analysis, gender and shock frequency were found as predictors for anxiety scores (P = 0.019 and P = 0.044, respectively). However same analysis revealed no predictive factor for depression score. CONCLUSION: Our study indicates presence of depression and anxiety in nearly half of the patients with ICD. Consultation with psychiatry should be a part of the treatment for patients with ICD, especially for those who constitute high-risk groups.     

Gastric juice for the diagnosis of H pylori infection in patients on proton pump inhibitors

AIM： To determine the efficacy of gastric juice polymerase chain reaction （PCR） for the detection of H pylori infection in comparison with histology and gastric antral biopsy PCR in patients on a proton pump inhibitor （PPI）. METHODS： Eighty-five consecutive patients with dyspeptic symptoms were enrolled. Gastric biopsies for histology, PCR and gastric juice were collected at endoscopy for PCR of the H pylori urease C gene （ure C）. Sensitivity, specificity, positive predictive value （PPV）, negative predictive value （NPV）, accuracy, positive and negative likelihood ratio for PCR of gastric juice for the H pylori ure C gene was compared to histology and gastric antral biopsy H pylori ure C PCR in patients with and without PPI. RESULTS： Gastric juice PCR was positive in 66 （78%） patients. Histology showed H pylori associated gastritis in 57 （67%）. Gastric biopsy PCR was positive in 72 （85%）. In patients not taking PPI, the sensitivity, specificity, PPV, NPV, accuracy and positive and negative likelihood ratio for gastric juice PCR were 89%, 72%, 91%, 67%, 90%, 85%, 3.1 and 0.1 respectively. In patients on PPI these values were 86%, 100%%, 100%, 29%, 86%, 9.5 and 1.4, respectively. CONCLUSION： Gastric juice PCR for the diagnosis of H pylori infection has increased sensitivity compared to histology with PPI. The use of gastric juice PCR is recommended to confirm H pylori status in patients taking PPIs.     

Feminizing testicular syndrome with multiple hamartomas and bilateral paratesticular leiomyomas

INTRODUCTION: Complete androgen insensitivity syndrome or testicular feminization syndrome (TF) is the most common form of male pseudohermaphrodism, caused by a failure of androgen receptor binding. Patient with male genotype 46 XY, has a female morphotype with well developed external sexual organs. EXEGESIS: - We report the case of a 29 year-old girl with a TF syndrome discovered during the exploration of a primary amenorrhoea. Bilateral orchidectomy was performed. The testis were immature; they showed bilateral leiomyoma of the tunica albuginea and multiple hamartomas on the right side. CONCLUSION: Benign tumors are developped in 80% of cases of TF and they are generally hamartomatous nodules of testis. Association of paratesticular leiomyoma to synchronous hamartoma has never been described, its histogenesis is discussed.