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Biomedical subjects

A Lerner

Publications and source records attributed to A Lerner.

At least 19 recordsLinked to original sources

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↗

Complications encountered while using thin-wire-hybrid-external fixation modular frames for fracture fixation. A retrospective clinical analysis and possible support for "Damage Control Orthopaedic Surgery".

One hundred ninety eight adult patients who had sustained long bone fractures were treated by external fixation from admission to bone healing and consolidation. Of these, 135 had sustained high-energy injuries, 39 of them had suffered multi-system injuries. Superficial pin track infection was the most common complication, occurring predominantly in pins located in the femur, upper tibia and upper humerus. There were no cases of deep infection or osteomyelitis. One patient with a femoral shaft fracture developed a DVT although he was on preventive low molecular weight heparin, i.e. sc Clexane 40 mg daily. There were no cases of PE or ARDS. External fixation systems are a minimal invasive surgical modality, which allow three-dimensional fracture fixation after closed or minimal open reduction. They require a good command of surgical anatomy, but provide an optimal preservation of the fracture's soft tissue envelope, the critical biological factor for new bone formation and fracture healing. Recent publications have suggested that in the critically ill patient, minimally invasive fracture fixation surgery may prevent the perpetuation of a reactive, life threatening inflammatory reaction (the "second hit") which may induce the development of multiple organ dysfunction (MODS).

Adult↗

[Depersonalization after withdrawal from cannabis usage].

The phenomenon of depersonalization during cannabis usage (intoxication) is commonly known. However, its appearance after drug stoppage is relatively unknown. This article reviews the literature on depersonalization after cannabis withdrawal and discusses three representing cases demonstrating the severity of the problem. Clinical features are described as well as effects on functioning and the long-term nature of this disorder. The treatment approach in each case is also presented.

Anxiety Disorders↗

Sleep patterns in children and adolescents with functional recurrent abdominal pain: objective versus subjective assessment.

AIM: To document objective sleep patterns of children and adolescents with functional recurrent abdominal pain (RAP), and to compare them with subjective sleep assessments and sleep patterns of healthy controls. METHODS: Subjective sleep reports and sleep habit assessments were obtained from 25 adolescents with functional RAP and from 15 age- and gender-matched healthy volunteers, and were compared with continuous movement monitoring using the Actigraph for 7 consecutive days. RESULTS: Abdominal pain before falling asleep was a unanimous complaint in the RAP group, with 29% reporting awakening from sleep by the pain. Only 25% of RAP patients assessed their sleep quality as good, compared with 87% of the control group. Objective sleep patterns measurements of the RAP patients were similar to those of the control group as well as to measurements observed in a large population of school-aged children and adolescents. CONCLUSION: This study of a small group of children and adolescents with functional RAP provides objective evidence that their sleep patterns do not differ from those of normal peers, despite their subjective complaints.

Abdominal Pain↗

Association of dopaminergic and serotonergic genes with tardive dyskinesia in patients with chronic schizophrenia.

Tardive dyskinesia (TD) is a long-term adverse effect of antipsychotic drugs that are dopamine D2 receptor blockers. Serotonin receptor antagonism has been proposed as a common mechanism contributing to the low extrapyramidal side effect profile of atypical antipsychotic drugs. We evaluated candidate dopamine and serotonin genes for association with drug-induced TD. We examined three polymorphisms in the dopamine D2 receptor gene (DRD2), two sites in the 3' region of the dopamine transporter (DAT) gene, two sites in the promoter and coding region of the dopamine D4 (DRD4) receptor gene, as well as polymorphic sites in the serotonin 6 receptor gene, the serotonin transporter gene and the tryptophan hydroxylase gene, for association with TD susceptibility. Schizophrenic patients with (n=59) and without TD (n=63), matched for antipsychotic drug exposure and other relevant variables, were studied. No significant associations were found. Within the limitations imposed by the size of the clinical sample, these findings suggest that the above polymorphic loci do not contribute significantly to risk for TD. Further examination of loci that yielded positive results at a trend level and investigation of other candidate genetic loci coding for antipsychotic drug targets is warranted.

Adult↗

The prevalence of coeliac disease antibodies in patients with the antiphospholipid syndrome.

High prevalence of coeliac disease (CD) has been reported in various autoimmune disorders, buthas not been studied in the antiphospholipid syndrome (APS). We aimed to establish the prevalence of CD antibodies in a cohort of APS patients, and to examine whether CD may be responsible for some of the manifestations of APS. Fifty-seven patients (47 females, 10 males) with APS were studied for clinical manifestations and serological markers of the disease, as well as the presence of anti-endomysial antibodies using an ELISA assay (EMA-ELISA). Control subjects were 171 healthy individuals, age- and sex-matched (141 females). Eight patients with APS (14%, six females) were found to have EMA-ELISA antibodies, compared with 2/141 (1.1%) of controls (P = 0.0003). Antibodies against beta2-glycoprotein-I (beta2GPI) epitopes (GRTCPKPDDLP) were more prevalent in EMA-positive patients than in EMA-negative patients (P = 0.006). Vasculitic skin lesions were significantly more common in EMA-ELISA-positive compared with EMA-ELISA-negative patients(62.5 versus 16.3%, P = 0.01). Among the skin manifestations, superficial cutaneous necrosis (37.5 versus 2%, P = 0.007) was more prevalent in EMA-ELISA-positive than in EMA-ELISA-negative patients. EMA-ELISA antibodies are common in APS, and their presence is associated with high prevalence of antibodies recognizing certain beta2-glycoprotein epitopes, and with cutaneous manifestations of APS.

Adult↗

Immunologic recovery after autologous blood stem cell transplantation in patients with AL-amyloidosis.

We prospectively studied absolute lymphocyte (ALC) and monocyte counts (AMC), lymphocyte subsets and proliferative in vitro responses to mitogen and antigen in 12 patients with AL-amyloidosis (AL) undergoing autologous blood stem cell transplantation (SCT) with high-dose i.v. melphalan. Myeloid and lymphoid recovery (>500 per microl) occurred in a median of 10 days post SCT. While there was a continuous decline in the number of CD4+ T cells at 3 months, ALC, AMC, B cells (CD19+), CD8+ T cells, and NK cells (CD16+/56+) returned to baseline. While T cell proliferative responses to phytohemagglutinin (PHA) remained depressed, B cell function measured by the proliferative response to staphylococcal antigen returned to baseline by 3 months. To supplement our findings, we retrospectively evaluated ALC, AMC and serum immunoglobulin levels in a separate group of patients treated with the same protocol at our institution. ALC and AMC recovery was similar to the pattern observed in the initial study group. Immunoglobulin levels remained within normal ranges at 3 and 12 months after SCT. Of 50 patients who were followed for a minimum of 1 year following SCT, seven (14%) developed shingles and one (2%) had PCP pneumonia. In conclusion, cellular immune function, reflected by absolute numbers of CD4+ T cells and PHA responsive T cell proliferation, is significantly suppressed at 3 months after SCT in patients with AL, and this post-transplant immunosuppression is associated with a low but clinically meaningful occurrence of opportunistic infections typical of T cell immunosuppression.

Adult↗

Association between the serotonin 2A receptor gene and tardive dyskinesia in chronic schizophrenia.

Tardive dyskinesia (TD) is a long-term adverse effect of antipsychotic drugs that are dopamine D2 receptor blockers.(1) Serotonin receptor antagonism has been proposed as a common mechanism contributing to the low extrapyramidal effects profile of atypical antipsychotic drugs.(2) We examined the association of three polymorphisms in the 5-HT2A receptor gene (HTR2A) with TD susceptibility--T102C(3) and his452tyr(4) in the coding region and A-1438G(5) in the promoter--in matched schizophrenia patients with (n = 59, SCZ-TD-Y) and without TD (n = 62, SCZ-TD-N) and normal control subjects (n = 96). The T102C and the A-1438G polymorphisms are in complete linkage disequilibrium but not his452tyr. There was a significant excess of 102C and -1438G alleles (62.7%) in the SCZ-TD-Y patients compared to SCZ-TD-N patients (41.1%) and controls (45.9%; chi(2) = 12.8, df = 2, P = 0.002; SCZ-TD-Y vs SCZ-TD-N, chi(2) = 11.4, df = 1, P = 0.0008, OR 2.41, 95% CI 1.43-3.99) and of 102CC and -1438GG genotypes (SCZ-TD-Y 42.4%, SCZ-TD-N, 16.1%, controls 20.8%, chi(2) = 13.3, df = 4, P = 0.01). The 102CC and the -1438GG genotypes were associated with significantly higher AIMS trunk dyskinesia scores (F = 3.9; df = 2, 116; P = 0.02) and more incapacitation (F = 5.0; df = 2, 115; P = 0.006). The his452tyr polymorphism showed no association with TD. These findings suggest that the 5-HT2A receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia. Previously reported association of the T102C and A-1438G polymorphisms with schizophrenia(6) may reflect association of a sub-group of patients with a susceptibility to abnormal involuntary movements related to antipsychotic drug exposure.

Adult↗

p130Cas regulates the activity of AND-34, a novel Ral, Rap1, and R-Ras guanine nucleotide exchange factor.

We previously identified a novel murine protein, AND-34, with a carboxyl-terminal domain homologous to Ras family guanine nucleotide exchange factors (GEFs), which bound to the focal adhesion docking protein p130(Cas). Work by others has implicated both the human homologue of AND-34, BCAR3, and human p130(Cas), BCAR1, in the resistance of breast cancer cells to the anti-estrogen tamoxifen. Here we report that AND-34 displays GEF activity on RalA, Rap1A, and R-Ras but not Ha-Ras GTPases in cells. In contrast to several other Ral-GEFs, the Ral GEF activity of AND-34 is not augmented by constitutively active Ha-Ras(Val-12), consistent with the absence of a detectable Ras-binding domain. Efficient binding to AND-34 required both the Src-binding domain and a flanking carboxyl-terminal region of p130(Cas). The p130(Cas)-binding site mapped to a carboxyl-terminal sequence within the AND-34 GEF domain. Overexpression of p130(Cas), but not an AND-34-binding mutant of p130(Cas), inhibited the Ral GEF activity of co-transfected AND-34. This work identifies a new potential function for p130(Cas) and a new regulatory pathway involved in the control of Ral, Rap, and R-Ras GTPases that may participate in the progression of breast cancer cells to tamoxifen resistance.

Adaptor Proteins, Signal Transducing↗

[Management of compound high energy injuries of the limbs--lessons and recommendations].

We treated 49 patients with high energy injuries of the limbs between 1.1.94-31.12.97. They had sustained 61 fractures, 50 of which were open; 14 had bilateral injuries, and 3 had lost a limb. All fractures were stabilized on arrival with an A-O tubular external fixator. Soft tissue loss was covered by a combination of split skin graft and tissue flaps following repeated surgical debridement. After 10 days, or when all soft tissue defects were covered, the cantilever external fixation frame was exchanged for a hybrid ring which provided three-dimensional stability and allowed early full weight bearing and joint mobilization. The hybrid ring frame did not interfere with the care of soft tissue injuries. Furthermore, it kept the risk of developing deep infections to a bare minimum. At follow-up after a median of 20 months, 1 patient had developed osteomyelitis but all had returned to independent function.

Arm Injuries↗