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Biomedical subjects

D Kidron

Publications and source records attributed to D Kidron.

At least 19 recordsLinked to original sources

Prenatal diagnosis of malformations of cortical development by dedicated neurosonography.

OBJECTIVE: Malformations of cortical development (MCD) are rarely diagnosed in utero. We describe and compare the ultrasonographic and pathology findings in a cohort of fetuses with MCD. METHODS: Fetuses with MCD were identified among all fetuses evaluated for suspected brain anomalies at the Fetal Neurology Clinic, and the ultrasonographic findings were compared with the results of the pathology examination. RESULTS: We suspected the presence of MCD by ultrasonography in 23 fetuses. The mean gestational age at the time of ultrasound diagnosis was 26.2 (range, 18-40) weeks. The ultrasonographic findings leading to the diagnosis of MCD were abnormally overdeveloped gyri and sulci for gestational age (n = 7), delay in sulcation (n = 5), abnormally thin cortex (n = 5) abnormally wide and broad sulci (n = 3), bulging into the lateral ventricle (n = 1), cortical cleft (n = 1), and multiple intraparenchymal echogenic nodules (n = 1). All fetuses had associated central nervous system (CNS) and/or non-CNS anomalies. Pathology examination (performed in 17 fetuses) confirmed MCD in 16. CONCLUSIONS: Cortical malformations can be diagnosed in utero by ultrasonography based on the presence of specific deviations from the normal pattern of development. The identified cases may represent the more severe forms in the MCD spectrum. The pathology findings do not always conform to the current classification systems of MCD but help in differentiating between possible genetic and acquired etiologies and in some cases provide a definitive syndromic diagnosis.

Cerebral Cortex↗

Sonographic detection of fetal cerebellar cavernous hemangioma with in-utero hemorrhage leading to cerebellar hemihypoplasia.

We report the prenatal diagnosis of cerebellar cavernous angioma. Ultrasound examination at 21 weeks' gestation showed a hyperechogenic lesion measuring 12 mm in diameter, occupying most of the right cerebellar hemisphere. At 24 weeks' gestation, significant hypoplasia of the right hemisphere was diagnosed, and the pregnancy was terminated. Pathological evaluation of the lesion revealed extensive hemorrhaging and a rich network of dilated vessels and small capillaries. The right cerebellar lobe was hypoplastic and covered with blood clots. Cerebral cavernous malformation should be considered in the differential diagnosis of hyperechogenic lesions in the fetal cerebellum.

Adult↗

Fetal hyperechogenic kidney with normal amniotic fluid volume: a diagnostic dilemma.

OBJECTIVE: To determine the prognostic value of sonographically detected fetal hyperechogenic kidneys with normal amniotic fluid volume. METHODS: Seven cases of hyperechogenic fetal kidneys were identified by sonography over a 7-year period (1996--2002). Increased renal echogenicity was diagnosed when the renal parenchyma was of greater echogenicity than adjacent liver tissue. Amniotic fluid volume was measured by the semiquantitative sonographic technique known as the amniotic fluid index (AFI). RESULTS: Three of the live-born infants had autosomal dominant polycystic kidney disease and one had autosomal recessive polycystic kidney. In the remainder, autopsy study revealed multifocal renal dysplasia in two cases and normal kidneys in one. CONCLUSIONS: Increased renal echogenicity with normal amniotic fluid volume in a fetus without other anomalies is a difficult diagnostic dilemma. Although it is usually indicative of renal parenchymal disease with possible renal failure after birth or in early childhood, in some cases, it represents a normal variant. .

Amniotic Fluid↗

Differential diagnosis in fetuses with absent septum pellucidum.

OBJECTIVE: To elucidate the characteristic morphological features that may help in the prenatal differential diagnosis of absent septum pellucidum as demonstrated by ultrasound. METHODS: Twenty-six fetuses were referred to the fetal neurology clinic due to mild to severe ventriculomegaly and a connection between the lateral ventricles. The following ultrasonographic features were evaluated: place and extent of the ventricular communication, non-cleavage of the hemispheres and deep gray nuclei, callosal anomalies, position of the choroid plexus, and other central nervous system and facial or body anomalies. A flowchart was created in order to facilitate the final diagnosis. RESULTS: The presence of non-cleavage and/or characteristic facial anomalies prompted the diagnosis of holoprosencephaly (HPE) in 14 fetuses, including two fetuses with the middle interhemispheric variant. Ten fetuses were diagnosed as having hydrocephalus based on the lack of the same features and the observation that the communication between the lateral ventricles was at the level of the third ventricle with almost normal anterior and posterior segments. In two fetuses the diagnosis of septo-optic dysplasia vs. isolated agenesis of the cavum septi pellucidi was contemplated. CONCLUSIONS: The use of the proposed flowchart enabled differentiation between hydrocephalus and HPE. The communication between the ventricles in hydrocephalic fetuses may be due to a disruption of the septum pellucidum or to a pathological enlargement of the foramen of Monro. Published by John Wiley & Sons, Ltd.

Diagnosis, Differential↗

Fetal brain imaging: a comparison between magnetic resonance imaging and dedicated neurosonography.

OBJECTIVES: To evaluate whether fetal brain magnetic resonance imaging (MRI) adds useful clinical information to that obtained by dedicated fetal neurosonography using a combined transabdominal and transvaginal approach in fetuses with suspected brain anomalies. METHODS: In the 2-year period between January 2000 and January 2002, 42 fetuses underwent neurosonographic and MRI examinations of the brain. The referral indications were: asymmetric ventriculomegaly (13), ventriculomegaly (7), periventricular cysts (2), suspected midline findings (7), agenesis of the corpus callosum (3), infratentorial pathology (3), cytomegalovirus (CMV) infection (2) and miscellaneous indications (5). RESULTS: Neurosonography and MRI produced similar diagnoses in 29 fetuses: normal examination (10), isolated asymmetric ventriculomegaly (11), isolated ventriculomegaly (3), periventricular cysts (2), agenesis of the corpus callosum (1), pericallosal lipoma (1) and cerebellar hemorrhage (1). The neurosonographic diagnoses were more accurate in seven patients: hemimegalencephaly, pericallosal lipoma, signs of CMV infection, brain anomalies associated with agenesis of the corpus callosum and three fetuses with a normal ultrasound scan in which MRI suggested a parenchymal abnormality. MRI provided a more accurate diagnosis in three patients: a third ventricular dilatation was ruled out, normal ventricles in a fetus with an ultrasonographic finding of asymmetric ventricles, and diagnosis of progression of asymmetric ventriculomegaly. In three patients the identified pathologies were differently interpreted, each examination provided another aspect of the anomaly or a definitive diagnosis was not possible. CONCLUSIONS: Our study demonstrated that dedicated neurosonography is equal to MRI in the diagnosis of fetal brain anomalies. In most of the cases MRI confirmed the ultrasonographic diagnosis; in a minority of cases each modality provided additional/different information. The major role of MRI was in reassurance of the parents regarding the presence or absence of brain anomalies.

Agenesis of Corpus Callosum↗

Application of comparative genomic hybridization technique for detection of chromosomal aberrations in benign cystic teratoma.

Benign cystic teratoma, also known as dermoid cyst, is the most common of all ovarian neoplasms accounting for 10%-20% of all ovarian cysts. Most have a normal 46,XX karyotype. Less than 2% can undergo malignant transformation. By using the comparative genomic hybridization technique on nine benign ovarian cysts we were able to show two cases with chromosomal aberrations not seen before in dermoid cysts but known to be involved in malignant ovarian tumors. We speculate that these are the tumors carrying the potential for malignant transformation.

Adult↗

Application of comparative genomic hybridization in search for genetic aberrations in fibroadenomas of the breast.

We applied a comparative genomic hybridization (CGH) technique to paraffin-embedded tissue samples taken from fibroadenomas, benign breast tumors, to detect possible numerical and unbalanced genetic changes. We compared the results to those from previous cytogenetic studies of fibroadenomas. In concurrence with previous cytogenetic studies of fibroadenomas, we detected genetic aberrations in chromosomes 4-6, 8-13, 16, 18, 19, 20, and 22. In addition, with the CGH technique we were able to find two new aberrations, 15q+ and 16p-. Because these aberrations have also been reported to be present in breast cancer, the importance of this finding is yet to be determined.

Adolescent↗

CGH in the detection of confined placental mosaicism (CPM) in placentas of abnormal pregnancies.

Comparative genomic hybridization (CGH) was applied to samples taken from various sites of placentas originating from complicated pregnancies: 24 with intrauterine growth restriction (IUGR), one with multiple fetal malformation, one with toxemia, one with hydrocephalus and two with undetectable maternal serum alpha-fetoprotein (MSAFP). One of the most common aberrations in the IUGR cases was the addition of a whole or part of the X chromosome. Other aberrations such as additional Y chromosome or of 13(q22) or loss of chromosome 17 also appeared in different cases. In one IUGR case trisomy 8 (in one site) and 47,XXY (in all sites) were detected. In the two cases with undetectable MSAFP monosomy 16 was found. Some of the results were also confirmed by the FISH technique. In all the control cases (six normal and five with aneuploidy) CGH concurred with the known karyotype. Our results demonstrate the usefulness of the CGH technique in the genetic evaluation of fresh and paraffin embedded placentas in problematic pregnancies even when morphology is normal. However, it is very important to take multiple samples from different sites of the placenta.

Adult↗

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.

We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone. The main changes noted in the long bones consisted of short-bowed long bones with abnormal metaphyses and unossified epiphyses. Chondro-osseous morphology documented degenerating chondrocytes with disorganization of the hypertrophied cartilage and short disorganized columns of hypertrophied areas. An autosomal recessive mode of inheritance seems most likely.

Abnormalities, Multiple↗

Congenital periventricular pseudocysts: prenatal sonographic appearance and clinical implications.

OBJECTIVE: Periventricular pseudocysts (PVPC) are diagnosed in approximately 1% of premature newborns that undergo brain sonography during the first 24 h of life. These pseudocysts are thought to develop antenatally due to germinal matrix hemorrhage, but have not been described until now in prenatal ultrasound studies. The aim of this study was to report the identification, differential diagnosis, and prognosis of PVPC detected by prenatal ultrasound examination. DESIGN: Between 1997 and 2001 we made an ultrasound diagnosis of PVPC in 11 fetuses. In nine fetuses the findings were characteristic of PVPC and these patients represent our study group. Fetal magnetic resonance imaging was performed in five patients. Termination of pregnancy was carried out in three patients, in one case intrauterine fetal death occurred at 31 weeks, and one infant died in the neonatal period. The surviving four newborns are being followed in the pediatric neurology clinic. RESULTS: PVPC were diagnosed by ultrasound scan in fetuses between 16 and 37 weeks of gestation (mean, 29.7 weeks). Magnetic resonance imaging confirmed the presence of PVPC in two cases. In eight cases the pseudocysts were unilateral and in one case bilateral. They were an isolated finding in five patients. Four of these fetuses were delivered at term and have normal neurological development at ages ranging from 6 to 25 months. All fetuses with additional pathologies (coarctation of the aorta, hemimegalencephaly, cytomegalovirus infection, hypoplasia of the vermis with dysmorphism) did not survive. CONCLUSIONS: The prenatal diagnosis of PVPC warrants an extensive search for possible associated pathological findings. As an isolated finding, antenatal PVPC seem to carry a good prognosis.

Abortion, Induced↗

Complete hydatidiform mole and a coexistent viable fetus: report of two cases and review of the literature.

OBJECTIVE: The aim of this study was to report the clinical features, management, and outcome of two cases of complete hydatidiform mole with a coexisting viable fetus and to review the literature. PATIENTS: In this article, we report on the well-documented follow-up of 2 cases of twin pregnancies with complete hydatidiform mole and a viable fetus, both of which ended with the delivery of a normal infant at 41 and 26 weeks of gestation. It is of interest that both pregnancies were achieved following induction of ovulation with hMG/hCG. Since 1977, the year in which complete and partial moles were characterized as distinct pathologic entities, 15 cases (including our 2) have been reported. RESULTS: Persistent GTT developed in eight patients (53.3%) and four patients (27.7%) developed metastatic disease. Seventy-five percent patients with persistent GTT were treated with single-agent chemotherapy. The median gestational age of the patients with subsequent persistent GTT was 34.5 weeks compared to 38 weeks in the patients without persistent GTT. CONCLUSION: Complete hydatidiform mole and coexistent fetus is a rare occurrence and is associated with an increased risk of persistent gestational trophoblastic tumor. Based on currently available information, it seems that in the presence of a stable pregnancy, normal karyotype, and a normal sonogram it is reasonable to allow the pregnancy to continue.

Adult↗

Experimental acute necrotising pancreatitis: evaluation and characterisation of a model of intraparenchymal injection of sodium taurocholate in rats.

OBJECTIVES: To evaluate a simple model that produces progressive dose dependent pancreatitis, by intraparenchymal injection of sodium taurocholate. DESIGN: Open laboratory study. SETTING: Teaching hospital, Israel. MATERIALS: Forty eight Wistar rats. INTERVENTIONS: Sodium taurocholate was injected, 0.3 ml/100 g body weight, in concentrations of 5% and 10% into the pancreatic parenchyma of 32 Wistar rats, resulting in two distinct groups of severity. In 16 sham controls, saline was injected into the pancreas in similar fashion. Blood samples were withdrawn before, and 6, 24, 48, and 72 hours after induction of pancreatitis. RESULTS: Six hours after taurocholate injection, there was a sharp increase in the plasma activities of amylase, lipase, and lactate dehydrogenase (LDH). After 24 hours plasma activities of amylase and lipase decreased to near normal values while LDH remained slightly increased for 48 hours and decreased only after 72 hours. At 6 hours after the injection, interleukin-6 (IL-6) concentrations had increased slightly in the 5% group and decreased to the baseline values at 24 hours. In the 10% group, the increase in IL-6 values was significantly greater than in the 5% group (p = 0.04), and correlated well with severity of pancreatitis as defined by histology (p = 0.01) and mortality (p = 0.037). Twenty four hours after injection of taurocholate, morphological changes comprising diffuse necrosis of the pancreas, fat necrosis, and intestinal dilatation secondary to paralytic ileus were severe. Histopathological examination of the pancreas showed good correlation with the clinical findings and with mortality. No morphological changes were detected when saline was injected into the pancreas (sham control), and only mild rises of IL-6, lipase, amylase, and LDH activities were seen at 6 hours after injection. The mortality, after 10 days, was 80% in the 10% taurocholate group, 30% in the 5% taurocholate group, and 0 in the sham control group (p < 0.05). CONCLUSION: The intraparenchymal injection of taurocholate is easy to perform and highly reproducible. The histopathological injury is dose-dependent, as is the mortality. We conclude that this model is valuable for the study of new treatments for pancreatitis.

Animals↗

Gynecological aspects of female familial dysautonomia.

BACKGROUND: Familial dysautonomia is a genetic disease in which there is a defect in the autonomic and sensory nervous systems. These systems have a major role in the reproductive system. OBJECTIVE: To study the inter-relationship of autonomic and sensory dysfunction and gynecological function. METHODS: The gynecological histories of 48 women with familial dysautonomia were analyzed retrospectively. Their mean age was 22.25 years (range 12-47). Thirty-three women (65%) were available for further questioning and investigation of hormonal status. RESULTS: Menarche had occurred in 32 of the 48 (66.7%). Their average age of menarche was significantly delayed as compared to their unaffected mothers (15.5 vs. 13.6 years respectively, P = 0.002). The most prominent finding was the very high prevalence, 81.2%, of premenstrual symptoms. Seven of 26 had premenstrual syndrome symptoms of dysautonomic crisis. Blood sex hormone levels were normal in 27 of the 33 patients studied. None reached natural menopause. One patient had adenomyosis, and another, dysgerminoma. Three patients became pregnant and delivered healthy infants. CONCLUSION: Menarche is delayed in women with FD, and the physiological monthly hormonal fluctuations may disturb autonomic homeostasis sufficiently to precipitate dysautonomic crisis.

Adolescent↗

Comparative experimental study of esophageal wall regeneration after prosthetic replacement.

This study compares three prosthetic materials for potential use in patching and bridging congenital and acquired esophageal defects. The study was divided into two parts. In the first part, full-thickness, 6-cm2 cervical esophageal defects were induced in three groups of young mongrel dogs and were replaced with patches of lyophilized dura mater (Lyodura), polyethylene terephthalate (Dacron), or expanded polytetrafluoroethylene (PTFE). The dogs in the Lyodura subgroup were scheduled to be sacrificed after 1, 2, 4, 8, and 12 weeks and the dogs in the PTFE and Dacron subgroups were sacrificed after 1, 2, 3, 4, 6, and 7 months. The patched esophagus was removed for gross and microscopic examination. In the second part of the study a segment of the esophagus was excised in another three groups of dogs and replaced with 3 x 2 cm tubes of Lyodura, Dacron, or PTFE. Here the follow-up was prolonged and included radiological, endoscopic, and histological assessment. The dogs of each subgroup were scheduled to be sacrificed after 6, 8, and 12 months. Results indicated that lyophilized dura mater covered and neoepithelialized the patched area within the shortest period of time without foreign body reaction and with only slight collagen deposit, resulting in a ductile repaired esophageal wall. Therefore, its use may be considered for replacement of partial esophageal defects. For complete circumferential defects, the present study and our review of the literature showed that there is as yet no ideal prosthetic material that promotes good incorporation but is not prone to stenosis. Further studies in this area are required.

Animals↗

Resistance to blood flow in ovarian tumors: correlation between resistance index and histological pattern of vascularization.

OBJECTIVE: To investigate the correlation between the histological patterns of vascularization and the resistance index (RI) in ovarian tumors. DESIGN: In a retrospective study, the histological sections of the ovarian tumors with known preoperative RI values were reviewed and the pattern of vascularization was studied. SUBJECTS: Twenty-two women underwent B-mode sonography and color Doppler ultrasound within 3 days prior to explorative laparotomy for ovarian masses in the years 1992-93. METHODS: The RI of the ovarian tumors was calculated as the mean of three consecutive waveforms with the lowest RI. The representative histological sections were evaluated for quantity of arterioles and venules, after staining by Masson trichrome and Elastic Van Gieson. The arteriolar fraction (defined as the number of arterioles divided by the sum of the arterioles plus venules) and the density of vessels (defined as the number of arterioles and venules per microscopic field) were calculated in each histological section and correlated with the preoperative RI values. RESULTS: The mean RI was 0.36 +/- 0.07 for malignant tumors and 0.57 +/- 0.03 for benign tumors. Ovaries with malignancies showed significantly lower arteriolar fraction values (0.30 +/- 0.12) than those with benign tumors (0.56 +/- 0.05) and those with metastatic tumors (0.43 +/- 0.2) (p < 0.002 and p < 0.001, respectively). The density of vessels was higher in malignant tumors (8.0 +/- 3.8) than in benign lesions (2.7 +/- 1.5) (p < 0.01). RI values showed a strong positive correlation (r = +0.85, p < 0.0005) with the arteriolar fraction and a negative and weaker correlation (r = -0.69, p < 0.001) with the density of vessels. CONCLUSIONS: RI values are predominantly determined by the proportion of arterioles. The correlation between the histological pattern of vascularization and RI values reflects tumor angiogenesis and increases understanding of the advantages and limitations of measuring vascular resistance by color Doppler ultrasound.

Female↗

Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops.

Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. Elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis.

Adult↗

Prognostic factors in non-metastatic limb osteosarcoma: A 20-year experience of one center.

The purpose of this study was to evaluate the prognostic significance of variables in osteosarcoma. We performed a retrospective analysis of 35 patients with non-metastatic limb osteosarcoma that were treated between 1973 and 1994. The following variables were evaluated: age, sex, ethnic group, tumor histology and primary site, alkaline phosphatase (ALP) and lactate dehydrogenase (LDH) levels at diagnosis, treatment regimen, and the histologic response to treatment. Three variables showed significant correlation with prognosis: i) histologic response to preoperative treatment. Disease-free survival (DFS) was 89% in patients with grade III-IV histologic response after a median follow-up (MFU) of 64 months, 67% in patients with grade II after an MFU of 64 months, the patients with grade I response died within 15 months (p<0.0001); ii) treatment regimen. DFS was 83% after an MFU of 42 months, 62% after an MFU of 82 months, and 30% after an MFU of 177 months in patients treated by the 90's, 80's, and 70's protocols, respectively (p<0.05); iii) corrected ALP (cALP) levels at diagnosis. DFS was 78% after an MFU of 88 months in patients with cALP levels <200, and 32% after an MFU of 56 months in patients with cALP levels >200 (p=0.01). Low ALP levels, good histologic response to preoperative chemotherapy, and the new therapeutic regimen correlated with good prognosis in patients with osteosarcoma.

Adolescent↗

Prenatal diagnosis of fetal cerebellar lesions: a case report and review of the literature.

The fetal cerebellar structure, size and consistency are looked at in every system survey. Among the acquired cerebellar events that might change the cerebellar consistency are haemorrhage, infections in utero and neoplasia. Additional fetal malformations, if present, assist in making the final diagnosis. We present a case of an isolated echogenic mass in one of the cerebellar hemispheres along with the differential diagnosis.

Abortion, Therapeutic↗