Diaphragmatic defects in children of consanguineous parents

Summary It is known from the literature that total loss of the short arm causes complete Turner's signs (Hoo, 1975; Therman and Patau, 1974). Partial deletions of the short arm of the X chromosome are in some cases compatible with fertility (Fraccaro et al., 1977; Hoo, 1979), but in other cases they cause a significant ovarial insufficiency with Turner's signs (Giraud et al., 1974) or gonadal dysgenesis (Petrinelli et al., 1978). A common sign for all the patients having the Xp-wwith the break point in the dark band (p113-p21) seems to be a short stature. The presence of other clinical signs is rather irregular. In this work, a 25-year-old female patient having a Xp deficiency in region p21 (46,X,del(X) (qterp21:)) with short stature, primary amenorrhea, sterility, and clear Turner's is described.     

Frequency of consanguineous marriages among parents and grandparents of Down patients

Summary The existence of a rare autosomal gene which in the homozygous state would cause mitotic nondisjunction in the Down zygote has been hypothesized in the past by Alfi et al. (1980). This hypothesis can be supported or contradicted by the study of the frequency of consanguineous marriages among parents of affected children. Our study on 242 children affected with Down syndrome does not show any increase in the frequency of consanguineous marriages among their parents with respect to the general population, and therefore does not support the hypothesis of an autosomal gene controlling mitotic nondisjunction. Our data do not show any increase in the frequency of consanguineaous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.     

Conidiobolomycosis: a case report with histophathologic findings

Conidiobolomycosis is a subcutaneous mycosis of the facial midline affecting primarily adult males. It is caused by the saprophytic fungus, Conodiobolus coronatus, present in soils and dried vegetables, characteristic of intertropical regions. C. coronatus belongs to the class Zygomycetes, order Entomophthorales; it is a fungus composed of thick, short hyphae that grows at temperatures between 30 degrees C and 37 degrees C and causes nasal granulomas. The histologic findings are described of a case of conidiobolomycosis in a 31-year-old male, born and resident in the Urabá region of Colombia. He presented with a mid-facial deformity of the nose and upper lip edema, and polypoid images in the maxillary sinuses with destruction of the nasal septum. The biopsy revealed a diffuse inflammatory lesion located in the deep dermis and in the hypodermis corresponding to a necrotizing granuloma. Associated eosinophils and the presence of the Splendore-Hoeppli phenomenon were noted in the vacant central zone which apparently corresponded to location of the fungal hyphae. They did not stain with HE stain, but reacted to the PAS and Grocott staining techniques and appeared as rigid, thick-walled hyphae, centrally twisted and with cone-shaped endings.     

鹦鹉热衣原体感染致复视1例

鹦鹉热衣原体是一种胞内寄生的革兰阴性菌,可引发人畜共患病。鹦鹉热衣原体感染多表现为呼吸道症状,在中枢神经系统受累时通常表现为脑膜炎、颅神经麻痹、吉兰巴雷综合征以及癫痫。本文介绍了1例鹦鹉热衣原体致重症肺炎且合并颅神经损害的病例,经过多西环素抗感染治疗后肺部感染及颅神经病变好转。该病例报告不仅帮助临床医师进一步熟悉鹦鹉热衣原体感染累及中枢神经系统的临床表现,更有助于其了解鹦鹉热病原体目前的诊断手段。     

Glossopharyngeal neuralgia with syncope: a case report

We present the case of a 60-year-old woman with known glossopharyngeal neuralgia who was admitted to hospital because of recurrent syncopes associated with episodes of painful sensations in the caudal region of her tongue. Rhythm observation showed prolonged asystole, which was accompanied by a loss of consciousness. The asystole was preceded by an episode of pain. We concluded that the bradyarrhythmia and syncopes where associated with the glossopharyngeal neuralgia. Because of the life-threatening condition, we inserted a permanent dual-chamber pacing device. After implantation of the pacemaker, the patient had no further syncopes, although she still complained of episodic tongue pain.     

骨髓中检出组织胞浆菌1例

组织胞浆菌（Histoplasma capsulatum）是一种深部真菌,可引起人体深部组织胞浆菌病。最近我们从1例患者骨髓涂片瑞氏染色、PAS染色、骨髓病理活检中检出组织胞浆菌,现予报道。     

Fetus-in-fetu: report of a case

A 5 month-old female was brought to our clinic because of diarrhea and abdominal distension. A plain radiograph demonstrated a mass with a vertebral column in the right upper quadrant of the abdomen. At operation a mass was found to be retroperitoneal, well encapsulated, and connected to the abdominal aorta of the host by two small vessels; no other connections and adhesions were seen between the mass and the host. The ovaries, uterus, and other pelvic and abdominal viscera of the host were normal. The mass was diagnosed as a fetus-in-fetu. The fetus-in-fetu, encapsulated with an amniotic capsule, was covered with skin and had a top with long hair, two protuberances, an amniotic hernial sac, upper limbs with syndactylic fingers, a gluteal region, and lower limbs with polysyndactylic toes. A brain mass and a spinal cord were identified in the cranial cavity and the vertebral canal. Several spinal ganglia and a nerve plexus were found. A noselike structure, upper lip, maxillalike bone with teeth, tonguelike structure, intestines, ribs, bones of the extremities, and skeletal muscles were also identified. A cloacalike cyst was observed to have an opening in the external female genitalia. Microscopically, a small number of motor neurons were seen in the brain mass and the anterior horn of the spinal cord. In the spinal ganglia, ganglion cells were differentiated. The submucosal and myenteric plexuses were seen in the intestinal wall. Well-differentiated muscle fibers were often accompanied with myelinated nerve fibers. Hematopoiesis was observed in the cranial bone marrow. The presence of the sex chromatin was confirmed in the nuclei of motor neurons and polymorphonuclear leukocytes. Thus, the present fetus-in-fetu, which was connected to the abdominal aorta of the host by two vessels, was a monozygotic twin which developed within its own amniotic cavity.     

Extrahepatic cholangiocarcinoma with prolonged survival: a case report

Background

Cholangiocarcinoma has poor prognosis and short term-survival. Here, we report the case of a patient with unusually prolonged survival.

Case presentation

Our patient was a 56-year-old Arab man with a 6-month history of obstructive jaundice. A computed tomography scan of his abdomen revealed a mass at the confluence of the hepatic ducts with suspected malignant strictures on endoscopy. A positive tissue diagnosis was achieved more than 18 months after commencement of his symptoms. He remained functional throughout this period despite recurrent episodes of cholangitis.

Conclusions

Cholangiocarcinoma is a presumably fatal disease, especially because patients tend to present late with unresectable disease. Many patient-related and disease-related factors may alter survival.

     

VACTERL-H associated with central hypothyroidism: a case report

The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTERL-H has previously not been reported.     

声带曲霉感染1例

患者女,21岁,因声嘶2个月于2007年3月20日入院、患者于2007年1月感冒后出现发热、咳嗽,3d后出现声嘶,经当地医院予抗感染治疗和糖皮质激素治疗2个月无效（具体用药不详）,声嘶渐加重至失声。入院查体、化验检查均未见异常,电子鼻咽喉镜查示：双声带充血,前中部白色伪膜样物附着,左声带肥厚,声门闭合欠佳,[第一段]     

Eosinophilia in a patient with cyclical vomiting: a case report

BACKGROUND: Eosinophilic gastritis is related to eosinophilic gastroenteritis, varying only in regards to the extent of disease and small bowel involvement. Common symptoms reported are similar to our patient's including: abdominal pain, epigastric pain, anorexia, bloating, weight loss, diarrhea, ankle edema, dysphagia, melaena and postprandial nausea and vomiting. Microscopic features of eosinophilic infiltration usually occur in the lamina propria or submucosa with perivascular aggregates. The disease is likely mediated by eosinophils activated by various cytokines and chemokines. Therapy centers around the use of immunosuppressive agents and dietary therapy if food allergy is a factor. CASE PRESENTATION: The patient is a 31 year old Caucasian female with a past medical history significant for ulcerative colitis. She presented with recurrent bouts of vomiting, abdominal pain and chest discomfort of 11 months duration. The bouts of vomiting had been reoccurring every 7-10 days, with each episode lasting for 1-3 days. This was associated with extreme weakness and cachexia. Gastric biopsies revealed intense eosinophilic infiltration. The patient responded to glucocorticoids and azathioprine. The differential diagnosis and molecular pathogenesis of eosinophilic gastritis as well as the molecular effects of glucocorticoids in eosinophilic disorders are discussed. CONCLUSIONS: The patient responded to a combination of glucocorticosteroids and azathioprine with decreased eosinophilia and symptoms. It is likely that eosinophil-active cytokines such as interleukin-3 (IL-3), granulocyte macrophage colony stimulating factor (GM-CSF) and IL-5 play pivotal roles in this disease. Chemokines such as eotaxin may be involved in eosinophil recruitment. These mediators are downregulated or inhibited by the use of immunosuppressive medications.     

Incontinence in a child with a duplex kidney: case report

Persistent incontinence after toilet training in young girls and urinary tract infections or epididymitis in prepubertal boys should raise suspicion of an ectopic ureter. This often occurs in the context of duplication of kidney structures or other parenchymal abnormalities. The presence or absence of reflux affects surgical treatment, which may consist of ureteral reimplantation, ureteroureterostomy, and/or upper pole nephrectomy.     

Multifocal fibromatosis: a case report

We present of rare case of multifocal fibromatosis in a 52 year-old women. In 1996, she was first evaluated for a tumour of the right breast and on the basis of the surgical specimen the extra-abdominal fibromatosis was diagnosed. Four years later, she was reevaluated for the tumor of the right lung, and then in 2001 for the lesion of the right parietal pleura. Microscopic examination of pulmonary and pleural lesions revealed histological pattern almost identical with the breast tumor. The recurrent lesions were located proximally to the primary one.     

须癣毛癣菌肉芽肿1例

须癣毛癣菌肉芽肿,是由须癣毛癣菌侵入皮肤真皮导致的一种浅部真菌的深在感染。也称为Majocchi肉芽肿,毛囊周围肉芽肿,临床上较少见。作者发现1例,现报告如下。