Figen Aksoy

Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

Asphyxiating thoracic dystrophy‐Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell‐shaped or long narrow short thorax and brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell‐shaped thorax and mild brachydactyly, the one patient with renal involvement had long narrow thorax and severe brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family.

Impact of initial surgical treatment on survival of patients with differentiated thyroid cancer : Experience of an endocrine surgery center in an iodine-deficient region

This retrospective clinical study was designed to analyze the impact of the initial surgical procedure on the survival of 1000 patients with differentiated thyroid cancer of follicular cell origin who had a thyroid operation and were followed for the 30 years between 1968 and 1998 (median 14 years) in an iodine-deficient region where goiter is endemic. There were 753 women and 247 men with a mean age of 42.8 ± 6.7 years (range 17–86 years). Patients were divided into three groups. All patients had undergone thyroxine treatment and thyroid-stimulating hormone (TSH) suppression, and most had had iodine-131 treatment postoperatively. Group A consisted of 336 patients with differentiated thyroid cancer (DTC) who were treated with bilateral subtotal thyroidectomy in our institution or elsewhere. Group B consisted of 158 patients with DTC who were treated initially with unilateral total lobectomy and contralateral subtotal lobectomy in our institution or elsewhere and underwent reoperation in our department. Group C consisted of 506 patients with DTC who were treated initially with total or near-total thyroidectomy in our department. Kaplan-Meyer survival analysis was used. Recurrence was seen in 23% and death in 8% of the patients. The 20-year survival rates were 76%, 85%, and 92% for groups A, B, and C, respectively. The survival difference among the patients of group A and groups B and C was found to be statistically different (p < 0.001). Long-term survival of patients with differentiated thyroid cancer living in endemic areas for goiter can be influenced by the initial surgical treatment. Patients treated initially with total or near-total thyroidectomy appear to have a better prognosis.

Antenatal Bartter syndrome: analysis of two cases with placental findings.

The prenatal diagnosis of Bartter syndrome can be based on the high chloride level in the amniotic fluid. Microscopic examination of the placenta in untreated cases showed extensive mineralization in the chorionic villi in previous studies. Two cases were presented at 26–29 weeks of gestation with severe polyhydramnios. The mothers were treated with Indomethacin, KCl, and serial amniocentesis in order to reduce the amniotic fluid volume and prevent fetal hypokalemia. The microscopic examination of the placenta revealed focal calcification and acute atherosis in placental vessels. The treatment with Indomethacin in the antenatal period can prevent severe nephrocalcinosis.

Jarcho-Levin Syndrome Presenting as Neural Tube Defect: Report of Four Cases and Pitfalls of Diagnosis

Jarcho-Levin syndrome (JLS) causes severe vertebral and thoracic deformity and has an autosomal-recessive mode of inheritance. Prenatal diagnosis may be difficult in some cases without the history of an affected baby. We present 4 cases of JLS with neural tube defects as the prominent finding. In 2 of them the deformity of the thorax was minimal and was not detected by ultrasonography. Rib anomalies were revealed with radiological and pathological examinations after the termination. The location of the vertebral defect may be the determinant factor for the severity of the thoracic deformity. The real recurrence risk could only be found out after postnatal examinations in cases with neural tube defects.

Prenatal Diagnosis of Arthrogryposis multiplex congenita with Increased Nuchal Translucency but without Any Underlying Fetal Neurogenic or Myogenic Pathology

Arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema. We report another case of arthrogryposis multiplex congenita with increased nuchal translucency and scoliosis diagnosed by ultrasonography at 15 weeks of gestation. The pregnancy was terminated at the request of the parents. Post-mortem examination revealed that it was not associated with fetal myopathy or neuropathy. Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita.

Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy.

A case of cranioraschischisis including incomplete pentalogy of Cantrell (PC) is described. The female fetus had a large omphalocele with evisceration of the heart, left lung, liver, stomach, and intestines accompanying anencephaly, cervical, thoracal lumbar, spina bifida. The fetus had ectopia cordis and diaphragmatic agenesia with an intact sternum. We present a case of a neonate with the stigmata for PC with the exception of a sternal defect. A literature review is also included. Sonographers should check for ventral and dorsal anomalies with PC because they may occur simultaneously.

Multiple fetal anomalies in association with topiramate and oxcarbezepine treatment.

We present a case of a woman who used topiramate (100 mg) and oxcarbazepine (300 mg) continuously during pregnancy. Multiple fetal anomalies including limp defects of the lower extremities, pericardiac fluid collection, cardiomegaly, cleft lip and palate, absent right kidney, and dysplastic left kidney were found by ultrasonography. Labor was induced and anomalies were confirmed by autopsy. The malformation rate after exposure to oxcarbazepine in utero as a monotherapy was calculated to be 2.4%, which is compatible with the malformation rate seen in the general population. Topiramate is teratogenic in mice, rats, and rabbits, but there are very few reports about its teratogenicity in humans.

An Acardiac Twinning Presented as a Placental Mass

1. In the presence of artery-to-artery and veinto-vein anastomoses in the monochorionic placenta, the early pressure flow in the placental artery of one twin may exceed that of From the Department of Perinatology, Clinics of Gynecology & Obstetrics, Haseki Training & Research Hospital, Istanbul, Turkey, and the Department of Pathology, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey. Correspondence: Cem Dane, MD, Emlakbank Bloklari B:1 D: 12, Vatan caddesi Fatih/Istanbul, 34091 Turkey. E-mail: cemdane@ yahoo.com.

The Role of Different Molecular Markers in Papillary Thyroid Cancer Patients with Acromegaly

PURPOSE Prevalence of papillary thyroid cancer (PTC) is increased in patients with acromegaly. We aimed to determine the protein expression of BRAF, RAS, RET, insulin like growth factor 1(IGF1), Galectine 3, CD56 in patients with PTC related acromegaly and to compare the extensity of these expressions with normal PTC patients and benign thyroid nodules. METHODS We studied 313 patients with acromegaly followed in Cerrahpasa Medical Faculty, Endocrinology and Metabolism Clinic between 1998 and 2015. On the basis of availability of pathological specimen of thyroid tissues, thyroid samples of 13 patients from 19 with acromegaly related PTC (APTC), 20 normal PTC and 20 patients with multinodulary goiter (MNG) were histopathologically evaluated. Protein expressions were determined via immunohistochemical staining in ex-vivo tumor samples and benign nodules. RESULTS The incidence of PTC in acromegaly patients were 6% (n=19). Among patients with PTC, APTC and MNG, all the immunohistochemical protein expressions we have studied were higher in papillary thyroid cancer groups (p<0.01, for all). Between PTC group without acromegaly and APTC, galectin 3 and IGF1 expression was significantly higher in acromegalic patients (p<0.01 for all) while RAS was predominantly higher in PTC patients without acromegaly (p<0.01). CONCLUSION BRAF expression was not higher in PTC with acromegaly patients compared to PTC patients without acromegaly. Galectine 3 and IGF1 were expressed more intensively in APTC. These positive protein expressions may have more influence on determining malign nodules among acromegaly patients.

VACTERL-H syndrome: first trimester diagnosis.

We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation.