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Biomedical subjects

A Goldenberg

Publications and source records attributed to A Goldenberg.

At least 19 recordsLinked to original sources
PubMed2006

A cryopyrin-associated periodic syndrome with joint destruction.

OBJECTIVE: Describe four generations (11 members) of a family with a cryopyrin-associated periodic syndrome (CAPS), including joint destruction, associated with a CIAS1-gene mutation and good responses to anakinra. METHODS: In addition to detailed questioning and physical examination, six family members underwent haematological, immunological and biochemical testing. Exon 3 of the CIAS1 gene was sequenced in search of a mutation in the 1q44 region. RESULTS: During childhood or adolescence, four family members developed different combinations of the following CAPS manifestations: deafness (3/4); arthritis (4/4) with joint destruction for two of them; nervous (cerebral demyelinization, 2/4), cutaneous (livedo and/or urticaria, 3/4) and eye lesions (episcleritis and/or papilloedema, 4/4); IgA hypergammaglobulinaemia (4/4) and inflammatory syndrome (3/4). Sequencing of six family members' CIAS1-gene exon 3 identified a heterozygous mutation, c.1043C > T. Pertinently, this CAPS is distinct from chronic infantile neurological cutaneous and arthritis syndrome/neonatal onset multisystemic inflammatory disease syndrome and Muckle-Wells syndrome (MWS), which also result from exon 3 mutations in this gene. Moreover, this family did not have the usual neurological manifestations, typical morphological features and frequent amyloidosis of MWS. CONCLUSIONS: We describe a previously unreported form of CAPS with atypical neurological signs, joint destruction and livedo. This observation extends the clinical spectrum associated with CIAS1 mutations. Anakinra, an interleukin-1-receptor antagonist, prescribed to two family members, was highly effective.

Adolescent↗
PubMed2006

Evaluation of sequential perfusion with Euro-Collins and Belzer solutions for pancreas preservation in rats.

OBJECTIVE: To investigate the effect of Euro-Collins and Belzer solutions in a sequential preservation of the pancreas. METHODS: Forty-five Wistar-EPM rats were divided into four groups, according to the solution used during preservation: (1) saline solution (SF): animals perfused and preserved with saline solution; (2) Euro-Collins group (C): animals perfused and preserved with Euro-Collins solution; (3) Belzer group (B): animals perfused and preserved with Belzer solution; (4) Euro-Collins/Belzer group (CB): animals perfused with equal parts of Euro-Collins and Belzer solutions sequentially and preserved with Belzer solution. After perfusion, the animals underwent pancreas resection and preservation with the respective substance at 4 degrees C. Amylase was measured in the preservation solution after 12, 24, 36, or 48 hours. Finally, the pancreas was analyzed histologically, and a statistical analysis was performed. RESULTS: Groups SF and C showed the highest amylase levels in the preservation solution during all periods. The levels were higher than in groups C and CB (P = .05). Amylase levels were similar in groups B and CB to 24 hours (P = .05). Histological analysis was significant for analysis of pancreas islet cells and edema. Groups B and CB were histologically similar (P = .001) and different from groups SF and C. CONCLUSION: Sequential perfusion using Euro-Collins and Belzer solutions was effective for pancreas preservation in rats up to 24 hours.

Adenosine↗
PubMed2006

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

Cockayne syndrome is a multi-systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi-organ dysfunction. The main clinical features are severe dwarfism (<-2 SD), microcephaly (<-3 SD), psychomotor delay, sensorial loss (cataracts, pigmentary retinopathy, and deafness), and cutaneous photosensitivity. Here, 13 new cases of Cockayne syndrome are reported, which have been clinically diagnosed and confirmed using a biochemical transcription assay. The wide clinical variability, ranging from prenatal features to normal psychomotor development, is emphasised. When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with growth retardation, microcephaly, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.

Abnormalities, Multiple↗
PubMed2006

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Oral-facial-digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within OFD1. A French and Belgian collaborative study collected 25 cases from 16 families. OFD1 was analysed using direct sequencing and phenotype-genotype correlation was performed using chi2 test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype-genotype correlation between (a) polycystic kidney disease and splice mutations; (b) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (c) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation. Finally, an X inactivation study showed non-random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype-genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.

Adult↗
PubMed2004

Transient atypical monocytosis mimic acute myelomonocytic leukemia in post-chemotherapy patients receiving G-CSF: report of two cases.

Granulocyte colony-stimulating factor (G-CSF) is now widely used in patients with malignant disorders receiving intensive chemotherapy to increase leukocyte count and to upregulate phagocyte function during neutropenia. Monocytosis associated with G-CSF has been reported in anecdotal literature. We report two cases of pseudoleukemia secondary to G-CSF administration. Both patients initially presented with myelodysplastic syndrome with chromosome 7 abnormalities that evolved into acute myeloid leukemia. Case one had deletion 7q while case two initially had monosomy 7 and subsequently developed a balanced translocation between the short (p) arm of chromosome 1 and long (q) arm of chromosome 15. Following the induction chemotherapy and G-CSF administration, both of these patients developed pseudoleukemia. Patient 1 had white blood cell (WBC) count of 26 x 10(9)/l with 72% monocytes, while patient two had WBC of 14.1 x 10(9)/l with 30% monocytes. In both patients the monocytosis resolved after the discontinuation of G-CSF therapy. In summary, patients treated with G-CSF should be followed closely. In those cases with pseudoleukemia discontinuation of the drug with no supplemental chemotherapy is probably enough to control the atypical monocytosis.

Aged↗
PubMed2003

[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].

INTRODUCTION: SLO (Smith-Lemli-Opitz) syndrome is an autosomal recessive multiple congenital malformations syndrome, including mental retardation, failure to thrive, craniofacial abnormalities, incomplete development of male genitalia, limb anomalies and various internal organ abnormalities. This syndrome is caused by a deficiency of cholesterol biosynthesis at the distal step of 7-dehydrocholesterol reductase (7DHCR). PATIENTS AND METHODS: We have reviewed 45 cases of SLO syndrome and showed the large clinical spectrum of this syndrome. RESULTS: The prenatal diagnosis should be considered when dealing with antenatal growth retardation and visceral malformations. At birth, a normal weight does not systematically exclude the diagnosis. Diagnosis was more difficult for older children especially for girls and should be suspected on the association of mental retardation, autism, short stature and microcephaly. We found a correlation between low plasmatic cholesterol measurement and clinical severity. Phenotype-genotype correlation was difficult to establish. However, homozygosity for IVS8-1G > C splice site mutation was associated with severe phenotype. CONCLUSION: Better understanding of the 7DHCR gene regulation factors and of the compensatory mechanism of foeto-maternal cholesterol transfer are necessary to explain the wide clinical spectrum of the SLO syndrome.

Adolescent↗
PubMed2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been reported. Here, we report the G13513A transition in the ND5 mtDNA gene in three unrelated children with complex I deficiency and a peculiar MRI aspect distinct from typical Leigh syndrome. Brain MRI consistently showed a specific involvement of the substantia nigra and medulla oblongata sparing the basal ganglia. Variable degrees of heteroplasmy were found in all tissues tested and a high percentage of mutant mtDNA was observed in muscle. The asymptomatic mothers presented low levels of mutant mtDNA in blood leucocytes. This mutation, which affects an evolutionary conserved amino acid (D393N), has been previously reported in adult patients with MELAS or LHON/MELAS syndromes, emphasising the clinical heterogeneity of mitochondrial DNA mutations. Since the G13513A mutation was found in 21% of our patients with Leigh syndrome and complex I deficiency (3/14), it appears that this mutation represents a frequent cause of Leigh-like syndrome, which should be systematically tested for molecular diagnosis in affected children and for genetic counselling in their maternal relatives.

Brain↗
PubMed2003

Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome.

OBJECTIVE: To report the first case of a 46XX female infant with Smith-Lemli-Opitz syndrome (SLOS), adrenal insufficiency and abnormal genitalia. METHODS: The patient was assessed for hormonal status on day 4 and 6 months later and was followed-up from the study time (2.5 years of age). RESULTS: The patient had a persistent urogenital sinus, posterior labial fusion without clitoromegaly. She presented with a salt-wasting syndrome on day 4. Adrenal insufficiency was confirmed. Adrenal androgen levels, including 17-hydroxyprogesterone and 11-deoxycortisol were moderately elevated. CONCLUSION: Children with SLOS should be assessed for adrenal insufficiency. In female infants, abnormal external genitalia can be observed even if the precise mechanism behind these abnormalities is yet to be determined.

Abnormalities, Multiple↗
PubMed2002

[Marfan syndrome in the newborn and infants less than 4 months: a series of 9 patients].

We report a series of 9 children with neonatal Marfan syndrome. The diagnosis was made on a striking facial dysmorphia associated with arachnodactyly type skeletal anomalies. They all had cardiovascular anomalies: aortic dilatation 9 times, and mitral and/or tricuspid valve prolapse 8 times. Three children underwent ascending aorta replacement with the Yacoub technique. There was one operative death in a young infant and the two survivors required further surgery for gross mitral insufficiency and an aneurysm of the horizontal aorta. Three children died before the age of 1 year from cardiac insufficiency linked to massive leaks of all the valves. The three youngest children in the series did not undergo any procedure and were followed up for a slowly growing dilatation of the initial aorta. The prognosis of neonatal Marfan syndrome is weighted with a heavy mortality. The timing of surgical intervention in case of excessive dilatation of the aortic root is difficult to determine. It depends not only on the aortic diameter but also on the aortic valve function and the existence of other mitral or tricuspid lesions. Surgical treatment for lesions of the initial aorta and the atrioventricular valves improves the short-term prognosis but the risk of re-intervention is higher.

Aortic Diseases↗
PubMed2000

Role of EUS in the preoperative localization of insulinomas compared with spiral CT.

BACKGROUND: Preoperative radiologic localization of insulinomas often fails because of the small size of these tumors. Endoscopic ultrasound (EUS) can localize insulinomas in up to 80% of the cases. The aim of this study was to compare EUS and computed tomography (CT) diagnostic accuracy for insulinomas. METHODS: We reviewed medical records from 12 patients (10 women) with a biochemical diagnosis of hypoglycemia and hyperinsulinism from 1 university hospital and 1 community hospital. A diagnosis of insulinoma was ultimately made in all cases and before surgery the patients underwent abdominal US, spiral CT and EUS in an attempt to precisely localize the tumor. Surgery was considered the standard for tumor localization. RESULTS: Ten tumors were benign (83.3%) and 2 were malignant (16.7%). The overall sensitivity of EUS in identifying insulinomas was 83.3% compared with 16.7% for CT. Tumors not detected by EUS had a mean size of 0.75 cm. EUS-guided fine-needle aspiration was possible in only 3 patients, with a positive cytologic diagnosis in 2 (66.6%). Tumors located in the head and body of the pancreas were identified by EUS in all patients, but those located in the tail were diagnosed in only 50% of the cases. CONCLUSIONS: EUS is superior to spiral CT and should replace it for the detection of pancreatic insulinomas. EUS identification depends on the site and size of the tumor.

Adult↗
PubMed2000

Video-endoscopic dissection of multiple pedicled arterial grafts for use in minimally invasive coronary artery bypass surgery.

BACKGROUND: We evaluated the possibility of video-endoscopic dissection of both internal thoracic arteries (rTAs) through the left thoracic approach and right gastroepiploic artery (GEA) via a small laparoscopic access, for use in minimally invasive coronary artery bypass surgery. METHODS: The procedure was performed on twenty-two mongrel dogs. Three 10 mm ports were inserted in the left hemithorax to enable the introduction of a rigid 0-degree videoscope and forceps which allowed access to the left and right ITAs. For dissection of the GEA, one 10 mm and two 5 mm ports were inserted in the para-umbilical region. RESULTS: The left and right ITAs and the GEA were easily visualized and dissection and complete mobilization was achieved without injury, which was checked by the presence of good blood flow. The ITAs and GEA were divided distally, exteriorized through a small left anterior thoracotomy and the length of these three grafts were able to reach all of the left coronary artery branches. CONCLUSIONS: We have demonstrated, in dogs, the feasibility of video-assisted dissection of both the left and right ITAs through the left thoracic approach, without sternotomy, avoiding the risks of sternal complications and expanding its use for all patients. Furthermore, a third arterial conduit (the RGA) can be used without requiring laparotomy.

Angioscopy↗
PubMed2000

Laparoscopic cholecystectomy in a patient with a duplicated cystic duct.

Cystic duct duplication with a single gallbladder is one of the most uncommon abnormalities of the biliary tract, with fewer than 15 instances published. The authors describe a 49-year-old patient undergoing a laparoscopic cholecystectomy in whom a second cystic duct was found, initially misdiagnosed as the biliary tract. The cholecystectomy was performed successfully with the aid of intraoperative cholangiography. It is the first time a duplicated cystic duct has been treated successfully using a laparoscopic approach.

Cholecystectomy, Laparoscopic↗
PubMed1999

Hypoxic upregulation of tyrosine hydroxylase gene expression is paralleled, but not induced, by increased generation of reactive oxygen species in PC12 cells.

Oxygen sensing was investigated in rat pheochromocytoma PC12 cells. They respond to hypoxia with an increased intracellular generation of reactive oxygen species (ROS), measured by oxidation of dihydrorhodamine 123. This increase is abolished by intracellular superoxide scavenging by Mn(III)-tetrakis(1-methyl-4-pyridyl)-porphyrin, and reduced or absent in the presence of the flavoprotein/complex I inhibitors, diphenyl-eneiodonium and rotenone. The same inhibitors, but neither intra- nor extracellular (superoxide dismutase) superoxide scavenging, abolish the hypoxia-induced increase in tyrosine hydroxylase (TH) gene expression. Thus, ROS production increases in PC12 cells during hypoxia, but this is not the cause of hypoxic TH mRNA upregulation that involves a flavoprotein.

Animals↗
PubMed1998

Malignant melanoma metastatic to the breast: a report of seven cases diagnosed by fine-needle aspiration cytology.

BACKGROUND: Metastases to the breast from extramammary primary tumors are uncommon. Malignant melanoma is one of the most common neoplasms to secondarily involve the mammary parenchyma. METHODS: Seven cases of malignant melanoma metastatic to the breast diagnosed by fine-needle aspiration biopsy are presented. RESULTS: The cytologic findings of malignant melanoma metastatic to the breast usually are straightforward on aspiration cytology. However, knowledge of a prior history of melanoma is crucial to make an accurate diagnosis. CONCLUSIONS: Malignant melanoma metastatic to the breast can be diagnosed reliably by fine-needle aspiration cytology, thus avoiding radical and unnecessary surgery.

Adult↗
PubMed1992

Phase I study of doxorubicin, ICRF-187 and granulocyte/macrophage-colony-stimulating factor.

A group of 16 patients with advanced malignancy were entered on a phase I trial of escalating doses of doxorubicin with ICRF-187 for cardioprotection and granulocyte/macrophage-colony-stimulating factor (GMCSF) for bone marrow protection. Patients received intravenous ICRF-187 (dose ratio 20:1 ICRF-187:doxorubicin) 30 min prior to doxorubicin. GMCSF at a dose of 15 micrograms kg-1 day-1 was self-administered subcutaneously on days 3-14 of the cycle. Doxorubicin was administered every 21 days. Substantial hematological and non-hematological toxicity was seen. Fever, malaise, and pulmonary symptoms, thought to be due to GMCSF, were not eliminated by reduction in the GMCSF dose to 10 or 5 micrograms kg-1 day-1. Severe hematological toxicity was seen despite GMCSF administration and it was not possible to escalate the doxorubicin dose above 72 mg/m2 with this combination. Dose escalation of doxorubicin may be more feasible with the use of other growth factors or growth factor combinations.

Dose-Response Relationship, Drug↗
PubMed1991

Computer- and robot-assisted resection of thalamic astrocytomas in children.

Six children ranging in age from 2 to 10 years who harbored deep benign astrocytomas were operated upon using a computer- and robot-assisted system. A radical excision was achieved in all cases with no significant morbidity nor any mortality. The system consists of an interactive, three-dimensional display of computed tomographic image contours and digitized cerebral angiograms taken using the Brown-Roberts-Wells stereotactic frame. The surgical retractor is held and manipulated using a PUMA 200 robot. The position and orientation of the surgical retractor is displayed on the three-dimensional display. Preoperative planning and simulation are important features of this system. Movement of the brain after removal of the tumor and cerebrospinal fluid is substantial, so the tumor removal is based on visually defined margins. Enhanced computer graphics and robotic devices are important adjuncts to neurosurgical procedures and will find increasing use in the future.

Astrocytoma↗