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Biomedical subjects

L Kornreich

Publications and source records attributed to L Kornreich.

At least 19 recordsLinked to original sources
PubMed2003

A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation.

OBJECTIVES: Familial thrombocytopenia is a relatively rare and heterogeneous group of clinical and genetic syndromes of unknown etiology. Recently, mutations in a few hematopoietic transcription factors were implicated in dysmegakaryopoiesis with and without dyserythropoietic anemia. The aim of the present study was to describe the clinical and hematologic picture of members of a Bedouin family with severe congenital thrombocytopenia associated with neutropenia and anemia and to determine the possible involvement of hematopoietic transcription factor genes in their disease. PATIENTS AND METHODS: Four members of a Bedouin family presented with severe bleeding tendency, including intracranial hemorrhage in three. Three of the four were successfully treated with allogenic human leukocyte antigen (HLA)-matched bone marrow transplants. Measurements of serum erythropoietin and thrombopoietin levels, bone marrow electron microscopy, and megakaryocytic colony were grown for each patient in addition to DNA amplification and single-strand conformation polymorphism of each exon of the NF-E2, Fli-1, FOG-1, and Gfi-1b in genes. RESULTS: Bone marrow studies revealed dysmegakaryopoiesis and mild dyserythropoiesis. A low number of bone marrow megakaryocyte colony-forming units was found, as well as a slightly elevated serum thrombopoietin level. No mutation was identified in any of the transcription factor genes examined. CONCLUSIONS: A unique autosomal recessive bone marrow disorder with prominent involvement of megakaryocytes is described. Defects were not identified in transcription factors affecting the common myeloid progenitor.

Anemia↗
PubMed2002

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

BACKGROUND: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric, spongy degeneration of the caudate nucleus, putamen, and globus pallidus. The familial form of IBSN is rare, and inheritance is either autosomal recessive or maternal. METHOD: The authors describe an Israeli Bedouin kindred in which 15 children born to consanguineous parents were affected with familial IBSN. They evaluated the clinical and radiologic evolution of the disease in 11 patients and the cerebral pathologic findings in one patient. Three of the children were treated with oral biotin 100 mg/day. RESULTS: Inheritance was apparently autosomal recessive. The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy. Postmortem study in one patient showed severe atrophy of the lenticular nuclei with gliosis and loss of neurons. Biotin, 100 mg/day, administered to the proband over a period of 15 months, may have slowed progression. In two other children treatment was initiated earlier and appeared to arrest or improve disease. CONCLUSIONS: Familial infantile bilateral striatal necrosis was inherited as an autosomal recessive trait. Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. Oral biotin may have benefited three children.

Basal Ganglia Diseases↗
PubMed2002

Craniofacial and brain abnormalities in Laron syndrome (primary growth hormone insensitivity).

OBJECTIVE: To investigate abnormalities in the craniofacial structures and in the brain in patients with Laron syndrome. DESIGN: Eleven patients with classical Laron syndrome, nine untreated adults aged 36-68 years and two children aged 4 and 9 years (the latter treated by IGF-I), were studied. METHODS: Magnetic resonance images of the brain were obtained in all the patients. One patient also underwent computed tomography. The maximal diameter of the maxillary and frontal sinuses was measured and compared with reference values, the size of the sphenoid sinus was evaluated in relation to the sella, and the mastoids were evaluated qualitatively (small or normal). The brain was evaluated for congenital anomalies and parenchymal lesions. RESULTS: In the adult untreated patients, the paranasal sinuses and mastoids were small; in six patients, the bone marrow in the base of the skull was not mature. The diploe of the calvaria was thin. On computed tomography in one adult patient, the sutures were still open. A minimal or mild degree of diffuse brain parenchymal loss was seen in ten patients. One patient demonstrated a lacunar infarct and another periventricular high signals on T2-weighted images. Two patients had cerebellar atrophy. CONCLUSIONS: The present study has demonstrated the important role IGF-I plays in the development of the brain and bony structures of the cranium.

Adult↗
PubMed2002

[The current approach to hemangiomas and vascular malformations of the head and neck].

Though most hemangiomas do not need treatment, a significant minority are associated with complications and external deformities that demand intervention. Steroids play an important role in therapy, but not infrequently afford only partial and temporary benefit. Thanks to improvements in the surgical approach and equipment, hemostasis control devices and laser techniques, we can now treat patients who would otherwise go untreated. Moreover, in certain cases, we can now recommend earlier intervention, saving patients from years of living with deformities and the concomitant psychosocial problems. Vascular anomalies of the head and neck include venular, venous and arteriovenous malformations. These lesions are slow growing vascular ectasia that never involute spontaneously and almost always require intervention. Treatment includes laser therapy, injection of sclerosing agents, embolization through angiography and surgery, which in many cases is the only definitive treatment. We present the current treatment approach and describe our experience in the treatment of 16 patients.

Blood Vessels↗
PubMed2001

Significance of residual abdominal masses in children with abdominal Burkitt's lymphoma.

PURPOSE: To evaluate the natural history of children with abdominal Burkitt's lymphoma who had complete clinical remission and residual abdominal mass after treatment. MATERIAL AND METHODS: The charts and imaging findings of all children with abdominal Burkitt's lymphoma treated and followed at our medical center between 1988 and 1999 were reviewed for the presence, management, clinical course, and prognosis of residual mass. RESULTS: Only children who achieved complete clinical remission were included. The study group consisted of 33 children (20 boys and 13 girls) aged 2.6-17.6 years (mean 7.2 years). Of these, seven (20.6 %) were found to have a residual abdominal mass. Two underwent second-look operation with no evidence of viable tumor on histology. The remaining five were followed by imaging studies for 2.2-9.1 years (mean 6.1 years); none relapsed. CONCLUSION: Residual mass is not uncommon in children with abdominal Burkitt's lymphoma. The presence of residual mass in a child with complete clinical remission does not alter the long-term prognosis. Therefore, in children with Burkitt's lymphoma and residual mass with no other signs of disease activity, expectant watching may be appropriate.

Abdominal Neoplasms↗
PubMed2000

Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father.

An infant with cystic fibrosis and her asthmatic father were diagnosed as suffering from allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis was diagnosed in the infant at 6 weeks of age, and gene mutations were W1282X/G542X. She was diagnosed definitively as suffering from ABPA at age 3.5 years, but had suggestive symptoms from age 11 months. This may be the youngest age described to date for ABPA. The child responded well to systemic steroid therapy, but remained steroid-dependent over the next 4 years. Treatment with itraconazole enabled a marked reduction in steroid dosage. The father was an asthmatic, and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. He had a normal sweat test, atopy, and moderate reversible airway obstruction. There was no proven exposure to Aspergillus in the home environment. The importance of considering the diagnosis of ABPA even in infancy, the therapeutic dilemmas, and the possible role of abnormal CFTR function in the development of ABPA are discussed.

Adult↗
PubMed2000

Visual pathway tumors and hydrocephalus.

The authors evaluated the impact of hydrocephalus on the clinical picture of children with visual pathway tumor (VPT) with or without neurofibromatosis (NF). Charts of children with VPT treated in the authors' center since 1985 were retrospectively reviewed, and those with hydrocephalus were selected and summarized. Thirty-five children with VPT were found, of whom 20 had NF. Hydrocephalus was found in 4 children with NF (20%) and in 5 without NF (33.3%). In 6 of the children, ventricular dilatation with signs of acute increased intracranial pressure already existed at the time of diagnosis and the hydrocephalus was shunted at this time. In the other 3 children, all with NF, the hydrocephalus resulted from slowly developing aqueductal stenosis, leading in 2 to severe visual acuity deterioration. The results suggest that in children with VPT and NF, hydrocephalus, and especially hydrocephalus resulting from aqueductal stenosis, is more frequent than in the general population of NF patients, and less frequent than in VPT patients without NF. The possibility of the indolent development of hydrocephalus should be borne in mind while following children with NF. The optic nerve, when already involved with a glioma, is more vulnerable to increased pressure. Thus, in children with VPT and NF, any ventricular dilatation should lead to a consideration of early shunting.

Child↗
PubMed2000

Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.

A 5-year-old child with desmoplastic small round-cell tumor was treated with a protocol of very-high-dose, short-term chemotherapy, containing HD-CAV (cyclophosphamide, doxorubicin, vincristine, and mesna), ifosfamide, and etoposide. Two days after the initiation of ifosfamide, he exhibited new-onset lethal encephalopathy manifested by subacutely progressive cerebellar and then temporal and frontocortical degeneration leading to a vegetative state and eventually to death. A full work-up, including brain biopsy, was negative, excluding infections and metabolic or vascular causes. Ifosfamide is known to be capable of causing acute encephalopathy that can be severe but is generally reversible. This child showed a very atypical progressive, lethal course of ifosfamide toxicity. The possibility of this complication should be considered when high-dose ifosfamide treatment is planned for children.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2000

Methotrexate treatment protocols and the central nervous system: significant cure with significant neurotoxicity.

Methotrexate can influence the central nervous system through several metabolic toxic pathways. These effects can be categorized as immediate, acute to subacute, or chronic neurologic syndromes. The acute to subacute syndrome occurs frequently in acute lymphoblastic leukemia treatment protocols, generally manifesting with focal neurologic signs and changes seen on magnetic resonance imaging and single photon emission computed tomography. While in some patients the neurotoxicity is transient and benign and allows for continuation of chemotherapy, in others it can be quite severe and debilitating, leading to permanent neurologic deficits. The need to modify the treatment protocols when neurotoxicity appears is not fully established. It is also unknown whether the use of sufficient amounts of leucovorin can overcome the toxic effects of the drug.

Adolescent↗
PubMed2000

Selected abstracts

Explore the source record for details and available documents.

Journal Article↗
PubMed2000

Traumatic adrenal injury in children.

BACKGROUND: Multiple organ injury in children is an increasingly frequent phenomenon in the modern emergency room. Adrenal hemorrhage associated with this type of trauma has received little attention in the past. OBJECTIVES: Using computed tomography, we sought to determine the rate and nature of adrenal gland injury in children following blunt abdominal trauma due to motor vehicular accident. METHODS: A total of 121 children with blunt abdominal trauma were examined and total body CT was performed in cases of multi-organ trauma or severe neurological injury. RESULTS: Of all the children who presented with blunt abdominal trauma over a 51 month period, 6 (4.95%) had adrenal hemorrhage. In all cases only the right adrenal gland was affected. Coincidental injury to the chest and other abdominal organs was noted in 66.7% and 50% of patients, respectively. CONCLUSIONS: Traumatic adrenal injury in the pediatric population may be more common than previously suspected. Widespread application of the more sophisticated imaging modalities available today will improve the detection of damage to the smaller organs in major collision injuries and will help in directing attention to the mechanism of trauma.

Abdominal Injuries↗
PubMed2000

Osteoid osteoma: resection with CT guidance.

BACKGROUND: Osteoid osteoma is a benign bone lesion characterized by nocturnal pain mostly, which may be relieved by non-steroidal prostaglandin inhibitors. Treatment by complete resection of the nidus immediately relieves the pain. Intraoperative location of the nidus may be difficult, and extensive bone resection may be necessary to ensure complete excision. Few studies have described resection of osteoid osteoma under CT guidance, and little attention has been given to lesions near the neurovascular bundle. OBJECTIVE: To report our results of osteoid osteoma resection under CT guidance, with specific attention to lesions lying near the neural structure. METHODS: Nine patients with suspected osteoid osteoma underwent resection with a 6.8 mm core drill under CT guidance. RESULTS: Histologic confirmation was obtained in seven patients, while in two there was no evidence of the nidus in the excised bone material. All nine reported complete pain relief immediately after the surgery. Postoperative CT scan showed complete removal of the osteoid osteoma. CONCLUSIONS: Removal of osteoid osteoma under CT guidance is simple, safe and allows complete removal of the nidus with low morbidity.

Adolescent↗
PubMed1999

Meyer dysplasia in the differential diagnosis of hip disease in young children.

OBJECTIVES: To describe a rare developmental disorder of the femoral capital epiphysis in infants and children that is often misdiagnosed and to suggest an evaluation protocol to differentiate it from other hip problems. DESIGN: Case series. SETTING: Tertiary care center. SUBJECTS: Five consecutive patients referred for evaluation of acute onset of limping between January 1990 and December 1997. INTERVENTION: All clinical and imaging data were collected. RESULTS: Two of the 5 patients were initially diagnosed as having osteomyelitis and 3 as having Perthes disease. The diagnosis of Meyer dysplasia was confirmed by plain film of the pelvis, a negative bone scan, or normal bone marrow findings on magnetic resonance imaging. The limping resolved without treatment in all patients within 1 to 3 weeks. CONCLUSIONS: Meyer dysplasia is a benign condition that should be included in the differential diagnosis of hip disease in infants and children. Awareness of this condition may prevent unnecessary hospitalization and treatment.

Child, Preschool↗
PubMed1999

Spontaneous splenic rupture in infectious mononucleosis: conservative management with gradual percutaneous drainage of a subcapsular hematoma.

Spontaneous splenic rupture (SSR) is a rare but potentially lethal complication of infectious mononucleosis (IM). Because the inflamed spleen is usually enlarged, congested, and friable, emergency splenectomy is recommended. We describe the conservative management of a SSR in a 16-year-old boy with IM. A pigtail catheter was inserted under ultrasonographic guidance and left in place for 36 h. This allowed the successful evacuation of the hematoma without compromising the splenic parenchyma.

Adolescent↗
PubMed1999

Postingestive chemosensation and feeding by leeches.

Distinct chemical cues acting on chemosensory structures on the dorsal lip of bloodsucking leeches activate the entire complement of appetitive and ingestive feeding behaviors. However, it is not known whether the maintenance of ingestion depends on continuous stimulation of these peripheral chemosensors. Leeches of the species Hirudo medicinalis and Macrobdella decora were fed for 2 min on an artificial blood solution containing 150 mM NaCl/1 mM arginine before switching the feeding solution to various experimental mixtures. Leeches did not start to feed on, but continued to ingest solutions in which equiosmolar KCl or lysine substituted for NaCl or arginine, respectively, until sated. In contrast, they rejected water and dropped off the feeding apparatus within 30 s of the exchange. Leeches also detached from the feeding tube when quinine, denatonium, or caffeine were added to the NaCl/arginine solution during an ongoing feeding bout. The duration of ingestion following the switch correlated inversely with the concentration of the drugs (0.1-10 mM). Superfusion of the dorsal lip with high concentrations of the bitter chemicals, while feeding was in progress, had no effect on the duration of ingestion. However, injections of the bitter substances directly into the gut, during a feeding bout, abruptly stopped ingestion. The results suggest that while leeches continue to sample their food once ingestion has begun, secondary chemosensory mechanisms situated downstream from the dorsal lip may be involved in the maintenance of ingestion and the rapid postingestive rejection of noxious foods.

Animals↗
PubMed1999

Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).

We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.

Adrenal Insufficiency↗