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1.
Facts Views Vis Obgyn ; 16(2): 237-240, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38950539

ABSTRACT

Oxidised regenerated cellulose was introduced 60 years ago to control diffuse bleeding from large surfaces. Although considered safe and effective, foreign body reactions can mimic suspicious masses in several organs. We describe the third case, reported in PubMed, of an oxidised regenerated cellulose-based granuloma mimicking a suspicious ovarian tumour on MRI. During surgery, the diagnosis was suspected by granulomatous tissue and confirmed by pathology. The follow-up after the excision was uneventful. Although a rare complication, physicians should be aware of this presentation and of the recommendation to remove excess Surgicel after the bleeding has stopped.

2.
Sci Total Environ ; 757: 143648, 2021 Feb 25.
Article in English | MEDLINE | ID: mdl-33316521

ABSTRACT

The Windermere Humic Aqueous Model (WHAM) is often used for risk assessment of metals; WHAM can be used to estimate the potential bioavailability of dissolved metals, where metals complexed to dissolved organic matter (DOM) are expected to be less toxic than ionic forms. Silver is a potential metal of concern but WHAM has not been rigorously tested against experimental measurements. This study compares WHAM predictions to measured ionic silver during fixed pH (4, 8 or 10) argentometric titrations of DOM from diverse origins. There were almost two orders of magnitude variation in free silver between sources but, within model uncertainty, WHAM captured this variability. This agreement, between measurements and models, suggests that WHAM is an appropriate tool for silver risk assessment in surface receiving waters when DOM is predominantly in the form of humic/fulvic acids. In sewage samples WHAM dramatically underestimated silver binding by approximately 3 orders of magnitude. Simulations with additional specific strong silver binding sulphide-like binding sites could explain Ag binding at low loadings, but not at higher loadings. This suggests the presence of additional intermediate strength binding sites. These additional ligands would represent components of the raw sewage largely absent in natural waters unimpacted by sewage effluents. A revised empirical model was proposed to account for these sewage-specific binding sites. Further, it is suspected that as sewage organic matter is degraded, either by natural attenuation or by engineered treatment, that sewage organic matter will degrade to a form more readily modelled by WHAM; i.e., humic-like substances. These ageing experiments were performed starting from raw sewage, and the material did in fact become more humic-like, but even after 30 days of aerobic incubation still showed greater Ag+ binding than WHAM predictions. In these incubation experiments it was found that silver (up to 1000 µg/L) had minimal impact on ammonia oxidation kinetics.

4.
J Basic Microbiol ; 55(4): 520-6, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25546328

ABSTRACT

A novel co-enrichment technique was designed for enrichment of magnetotactic bacteria from soil, water, and sediments. Delayed addition of iron uptake inducer and the iron source proved amenable to induce magnetosome synthesis by MTB followed by their separation from consortium using magnetic flux. We successfully enriched and isolated both North seeking as well as South seeking magnetotactic bacteria from Lonar Lake (Buldhana), Moti Lake (Jalna), Ghanewadi Lake (Jalna), Ganesh Lake (Miraj), Rankala Lake (Kolhapur), and industrial metal-contaminated glaying soils (Jalna) and a soil (Karad), (MS, India) exposed to high-voltage electric current. The hanging drop preparations and growth under magnetic stress on low-agar media allowed conformation of magnetotactic behavior of the isolates. Both Gram positive and Gram negative MTB were isolated with diverse morphologies. South seeking population was more predominant. The soil inhabitants showed little dwelling property which was more prominent in case of aquatic inhabitants. The use of in situ pH and salt concentrations during enrichment and isolation found suited. The simultaneous growth of whole consortium in the system ensured the in situ simulation of microenvironment needful for proper growth of fastidious MTB.


Subject(s)
Bacteriological Techniques , Geologic Sediments/microbiology , Gram-Negative Bacteria/isolation & purification , Gram-Positive Bacteria/isolation & purification , Soil Microbiology , Water Microbiology , DNA, Bacterial , Gram-Negative Bacteria/growth & development , Gram-Positive Bacteria/growth & development , India , Magnetic Fields , Magnetosomes/metabolism , Microbial Consortia , Phylogeny , Stress, Physiological
5.
Bioorg Chem ; 45: 12-28, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23064124

ABSTRACT

We report a series of new glitazones incorporated with phenylalanine and tyrosine. All the compounds were tested for their in vitro glucose uptake activity using rat-hemidiaphragm, both in presence and absence of insulin. Six of the most active compounds from the in vitro screening were taken forward for their in vivo triglyceride and glucose lowering activity against dexamethazone induced hyperlipidemia and insulin resistance in Wistar rats. The liver samples of rats that received the most active compounds, 23 and 24, in the in vivo studies, were subjected to histopathological examination to assess their short term hepatotoxicity. The investigations on the in vitro glucose uptake, in vivo triglyceride and glucose lowering activity are described here along with the quantitative structure-activity relationships.


Subject(s)
Hypoglycemic Agents/chemical synthesis , Phenylalanine/chemistry , Thiazolidinediones/chemistry , Tyrosine/chemistry , Animals , Blood Glucose/drug effects , Blood Glucose/metabolism , Drug Evaluation, Preclinical , Hyperlipidemias/chemically induced , Hyperlipidemias/drug therapy , Hypoglycemic Agents/pharmacology , Hypoglycemic Agents/therapeutic use , Liver/drug effects , Liver/pathology , Rats , Rats, Wistar , Structure-Activity Relationship , Thiazolidinediones/chemical synthesis , Triglycerides/blood
6.
J Neurosurg Pediatr ; 9(1): 1-10, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22208313

ABSTRACT

OBJECT: The authors conducted a study to define the long-term outcomes and risks of stereotactic radiosurgery (SRS) for pediatric arteriovenous malformations (AVMs). METHODS: Between 1987 and 2006, the authors performed Gamma Knife surgery in 996 patients with brain AVMs; 135 patients were younger than 18 years of age. The median maximum diameter and target volumes were 2.0 cm (range 0.6-5.2 cm) and 2.5 cm(3) (range 0.1-17.5 cm(3)), respectively. The median margin dose was 20 Gy (range 15-25 Gy). RESULTS: The actuarial rates of total obliteration documented by angiography or MR imaging at 71.3 months (range 6-264 months) were 45%, 64%, 67%, and 72% at 3, 4, 5, and 10 years, respectively. The median time to complete angiographically documented obliteration was 48.9 months. Of 81 patients with 4 or more years of follow-up, 57 patients (70%) had total obliteration documented by angiography. Factors associated with a higher rate of documented AVM obliteration were smaller AVM target volume, smaller maximum diameter, and larger margin dose. In 8 patients (6%) a hemorrhage occurred during the latency interval, and 1 patient died. The rates of AVM hemorrhage after SRS were 0%, 1.6%, 2.4%, 5.5%, and 10.0% at 1, 2, 3, 5, and 10 years, respectively. The overall annual hemorrhage rate was 1.8%. Larger volume AVMs were associated with a significantly higher risk of hemorrhage after SRS. Permanent neurological deficits due to adverse radiation effects developed in 2 patients (1.5%) after SRS, and in 1 patient (0.7%) delayed cyst formation occurred. CONCLUSIONS: Stereotactic radiosurgery is a gradually effective and relatively safe management option for pediatric patients in whom surgery is considered to pose excessive risks. Although hemorrhage after AVM obliteration did not occur in the present series, patients remain at risk during the latency interval until obliteration is complete. The best candidates for SRS are pediatric patients with smaller volume AVMs located in critical brain regions.


Subject(s)
Intracranial Arteriovenous Malformations/surgery , Radiosurgery/methods , Actuarial Analysis , Adolescent , Cerebral Angiography , Cerebral Hemorrhage/diagnosis , Cerebral Hemorrhage/etiology , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Intracranial Arteriovenous Malformations/diagnosis , Kaplan-Meier Estimate , Magnetic Resonance Angiography , Male , Postoperative Complications/diagnosis , Postoperative Complications/etiology , Retrospective Studies
7.
J Neurosurg ; 116(1): 21-32, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22077445

ABSTRACT

OBJECT: The object of this study was to evaluate the outcomes and risks of repeat stereotactic radiosurgery (SRS) for incompletely obliterated cerebral arteriovenous malformations (AVMs). METHODS: Between 1987 and 2006, Gamma Knife surgery was performed in 996 patients with AVMs. During this period, repeat SRS was performed in 105 patients who had incompletely obliterated AVMs at a median of 40.9 months after initial SRS (range 27.5-139 months). The median AVM target volume was 6.4 cm(3) (range 0.2-26.3 cm(3)) at initial SRS but was reduced to 2.3 cm(3) (range 0.1-18.2 cm(3)) at the time of the second procedure. The median margin dose at both initial SRS and repeat SRS was 18 Gy. RESULTS: The actuarial rate of total obliteration by angiography or MR imaging after repeat SRS was 35%, 68%, 77%, and 80% at 3, 4, 5, and 10 years, respectively. The median time to complete angiographic or MR imaging obliteration after repeat SRS was 39 months. Factors associated with a higher rate of AVM obliteration were smaller residual AVM target volume (p = 0.038) and a volume reduction of 50% or more after the initial procedure (p = 0.014). Seven patients (7%) had a hemorrhage in the interval between initial SRS and repeat SRS. Seventeen patients (16%) had hemorrhage after repeat SRS and 6 patients died. The cumulative actuarial rates of new AVM hemorrhage after repeat SRS were 1.9%, 8.1%, 10.1%, 10.1%, and 22.4% at 1, 2, 3, 5, and 10 years, respectively, which translate to annual hemorrhage rates of 4.05% and 1.79% of patients developing new post-repeat-SRS hemorrhages per year for Years 0-2 and 2-10 following repeat SRS. Factors associated with a higher risk of hemorrhage after repeat SRS were a greater number of prior hemorrhages (p = 0.008), larger AVM target volume at initial SRS (p = 0.010), larger target volume at repeat SRS (p = 0.002), initial AVM volume reduction less than 50% (p = 0.019), and a higher Pollock-Flickinger score (p = 0.010). Symptomatic adverse radiation effects developed in 5 patients (4.8%) after initial SRS and in 10 patients (9.5%) after repeat SRS. Prior embolization (p = 0.022) and a higher Spetzler-Martin grade (p = 0.004) were significantly associated with higher rates of adverse radiation effects after repeat SRS. Delayed cyst formation occurred in 5 patients (4.8%) at a median of 108 months after repeat SRS (range 47-184 months). CONCLUSIONS: Repeat SRS for incompletely obliterated AVMs increases the eventual obliteration rate. Hemorrhage after obliteration did not occur in this series. The best results for patients with incompletely obliterated AVMs were seen in patients with a smaller residual nidus volume and no prior hemorrhages.


Subject(s)
Brain/surgery , Intracranial Arteriovenous Malformations/surgery , Radiosurgery/instrumentation , Adolescent , Adult , Aged , Brain/diagnostic imaging , Cerebral Angiography , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Intracranial Arteriovenous Malformations/diagnostic imaging , Male , Middle Aged , Radiosurgery/adverse effects , Reoperation , Retrospective Studies , Treatment Outcome
8.
J Neurosurg ; 116(1): 11-20, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22077452

ABSTRACT

OBJECT: The aim of this paper was to define the outcomes and risks of stereotactic radiosurgery (SRS) for Spetzler-Martin Grade I and II arteriovenous malformations (AVMs). METHODS: Between 1987 and 2006, the authors performed Gamma Knife surgery in 996 patients with brain AVMs, including 217 patients with AVMs classified as Spetzler-Martin Grade I or II. The median maximum diameter and target volumes were 1.9 cm (range 0.5-3.8 cm) and 2.3 cm(3) (range 0.1-14.1 cm(3)), respectively. The median margin dose was 22 Gy (range 15-27 Gy). RESULTS: Arteriovenous malformation obliteration was confirmed by MR imaging in 148 patients and by angiography in 100 patients with a median follow-up of 64 months (range 6-247 months). The actuarial rates of total obliteration determined by angiography or MR imaging after 1 SRS procedure were 58%, 87%, 90%, and 93% at 3, 4, 5, and 10 years, respectively. The median time to complete MR imaging-determined obliteration was 30 months. Factors associated with higher AVM obliteration rates were smaller AVM target volume, smaller maximum diameter, and greater marginal dose. Thirteen patients (6%) suffered hemorrhages during the latency period, and 6 patients died. Cumulative rates of AVM hemorrhage 1, 2, 3, 5, and 10 years after SRS were 3.7%, 4.2%, 4.2%, 5.0%, and 6.1%, respectively. This corresponded to rates of annual bleeding risk of 3.7%, 0.3%, and 0.2% for Years 0-1, 1-5, and 5-10, respectively, after SRS. The presence of a coexisting aneurysm proximal to the AVM correlated with a significantly higher hemorrhage risk. Temporary symptomatic adverse radiation effects developed in 5 patients (2.3%) after SRS, and 2 patients (1%) developed delayed cysts. CONCLUSIONS: Stereotactic radiosurgery is a gradually effective and relatively safe option for patients with smaller volume Spetzler-Martin Grade I or II AVMs who decline initial resection. Hemorrhage after obliteration did not occur in this series. Patients remain at risk for a bleeding event during the latency interval until obliteration occurs. Patients with aneurysms and an AVM warrant more aggressive surgical or endovascular treatment to reduce the risk of a hemorrhage in the latency period after SRS.


Subject(s)
Brain/surgery , Intracranial Arteriovenous Malformations/surgery , Radiosurgery/instrumentation , Adolescent , Adult , Aged , Brain/diagnostic imaging , Cerebral Angiography , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Intracranial Arteriovenous Malformations/diagnostic imaging , Male , Middle Aged , Radiosurgery/adverse effects , Retrospective Studies , Treatment Outcome
9.
J Phys Condens Matter ; 23(37): 375301, 2011 Sep 21.
Article in English | MEDLINE | ID: mdl-21881170

ABSTRACT

We draw motivation from recent experimental studies and present a comprehensive study of magnetothermoelectric transport in a graphene monolayer within the linear response regime. We employ the modified Kubo formalism developed for thermal transport in a magnetic field. Thermopower as well as thermal conductivity as a function of the gate voltage of a graphene monolayer in the presence of a magnetic field perpendicular to the graphene plane is determined for low magnetic fields (∼1 T) as well as high fields (∼8 T). We include the effects of screened charged impurities on thermal transport. We find good qualitative and quantitative agreement with recent experimental work on the subject. In addition, in order to analyze the effects of modulation, which can be induced by various means, on the thermal transport in graphene, we evaluate the thermal transport coefficients for a graphene monolayer subjected to a periodic electric modulation in a magnetic field. The results are presented as a function of the magnetic field and the gate voltage.


Subject(s)
Electric Conductivity , Graphite/chemistry , Magnetic Fields , Models, Chemical , Thermal Conductivity , Algorithms , Computer Simulation
10.
Acta Neurochir (Wien) ; 153(8): 1601-9, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21538196

ABSTRACT

BACKGROUND: Gamma knife stereotactic radiosurgery (GKSR) is an effective minimally invasive option for the treatment of medically refractory trigeminal neuralgia (TN). Optimal targeting of the retrogasserian trigeminal nerve target requires thin-slice, high-definition stereotactic magnetic resonance imaging (MRI). The purpose of this study was to evaluate management outcomes in TN patients ineligible for MRI and who instead underwent GKSR using computed tomography (CT). METHODS: The authors reviewed their experience with CT-guided GKSR in 21 patients (median age: 75 years) with idiopathic TN. Contraindications to MRI included implanted pacemakers (n = 16), aneurysm clips (n = 2), cochlea implants (n = 1), metallic vascular stents (n = 1) or severe obesity (weight of 163 kg, n = 1). Contrast-enhanced CT at 1- or 1.25-mm intervals was acquired in all patients. One patient also underwent CT cisternography. The median target dose for GKSR was 80 Gy. The median follow-up was 35 months after GKSR. Treatment outcomes were compared to 459 patients who underwent MRI-guided GKSR for TN at our institute in the same time interval. RESULTS: Targeting of the trigeminal nerve guided by CT scan was feasible in all patients. Stereotactic frame titanium pin-related artifacts that interfered with full visualization of the trigeminal nerve were found in one patient who had the ipsilateral posterior pin placed near the inion. After GKSR, 90% of patients achieved initial pain relief that was adequate or better, with or without medication (Barrow Neurological Institute pain scores I-IIIb). Median time to pain relief was 2.6 weeks. Pain relief was maintained in 81% at 1 year, 66% at 2 years, and 46% at 5 years. Eight (42%) of 19 patients who achieved initial pain relief reported some recurrent pain at a median of 18 months after GKSR. Some degree of facial sensory dysfunction occurred in 19% of patients within 24 months of GKSR. These results are comparable to those of patients who had MRI-guided GKSR. CONCLUSIONS: CT-guided GKSR provides a similar rate of pain relief as MRI-guided radiosurgery. The posterior pins should be placed at least 1 cm away from the inion to reduce pin and frame-related artifacts on the targeting CT scan. This study indicates that GKSR using CT targeting is appropriate for patients with medically refractory TN who are unsuitable for MRI.


Subject(s)
Radiosurgery/methods , Tomography, X-Ray Computed/methods , Trigeminal Nerve/surgery , Trigeminal Neuralgia/surgery , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Radiation Dosage , Retrospective Studies , Stereotaxic Techniques/instrumentation , Treatment Outcome , Trigeminal Nerve/diagnostic imaging
11.
Indian J Med Microbiol ; 29(1): 60-2, 2011.
Article in English | MEDLINE | ID: mdl-21304198

ABSTRACT

Linezolid, a viable alternative to vancomycin against methicillin resistant staphylococcal isolates, has been in use for a decade around the globe. However, resistance against staphylococci remains extremely rare and unreported from most of the Asian countries. Herein, we report two cases of linezolid resistant, coagulase negative staphylococcal sepsis for the first time from India. The first case was an 18-year-old burn patient, who, after a major graft surgery, landed in sepsis, and linezolid resistant Staphylococcus cohnii with an minimum inhibitory concentration (MIC) of >256 µg/ml by both broth microdilution and Etest, was isolated from multiple blood cultures. The second patient was a 60-year-old male with an intracranial bleed and sepsis, from whose blood cultures, linezolid resistant Staphylococcus kloosii was repeatedly isolated. Linezolid MIC was >32 µg/ml by broth microdilution and >16 µg/ml by Etest.


Subject(s)
Acetamides/pharmacology , Anti-Bacterial Agents/pharmacology , Drug Resistance, Bacterial , Oxazolidinones/pharmacology , Sepsis/microbiology , Staphylococcal Infections/microbiology , Staphylococcus/classification , Staphylococcus/drug effects , Adolescent , Coagulase/metabolism , Female , Humans , India , Linezolid , Male , Microbial Sensitivity Tests , Middle Aged , Staphylococcus/isolation & purification
12.
Stereotact Funct Neurosurg ; 89(1): 17-24, 2011.
Article in English | MEDLINE | ID: mdl-21124048

ABSTRACT

BACKGROUND: The management of trigeminal neuralgia in patients with associated skull base meningiomas is complex. OBJECTIVE: We evaluated the pain management needs and outcomes in patients with petroclival meningiomas associated with medically refractory trigeminal neuralgia. METHODS: During a 21-year period, 168 patients underwent stereotactic radiosurgery (SRS) for meningiomas involving the petroclival region. We identified 12 patients (10 females; median age 54 years) who had trigeminal neuralgia in association with an ipsilateral petroclival meningioma. The median tumor volume was 3.8 cm(3) (1.0-15.9 cm(3)). The median prescription dose for tumor margins was 13 Gy (11-16 Gy). RESULTS: Initial pain control [Barrow Neurological Institute (BNI) grades I-IIIb] was obtained in 10 of 12 patients (83%). However, 3 patients with initial adequate relief later developed pain. Follow-up imaging revealed control of tumor growth in all patients at a median follow-up of 68 months. No patient developed any new sensory dysfunction. The tumor shrinkage was not associated with pain relief. At the final follow-up, 5 patients had pain of BNI grade I (2 after surgery), 4 had grade IIIb and 3 had grade IV. CONCLUSIONS: SRS provided effective tumor control, but trigeminal neuralgia persisted to varying degrees in most patients. Multimodality pain management strategies were required in most patients with skull base meningiomas associated with trigeminal neuralgia.


Subject(s)
Meningeal Neoplasms/surgery , Meningioma/surgery , Radiosurgery/methods , Skull Base Neoplasms/surgery , Trigeminal Neuralgia/surgery , Adult , Aged , Female , Humans , Male , Meningeal Neoplasms/complications , Meningeal Neoplasms/diagnostic imaging , Meningioma/complications , Meningioma/diagnostic imaging , Middle Aged , Radiography , Retrospective Studies , Skull Base Neoplasms/complications , Skull Base Neoplasms/diagnostic imaging , Treatment Outcome , Trigeminal Neuralgia/diagnostic imaging , Trigeminal Neuralgia/etiology
13.
Indian J Med Microbiol ; 28(2): 169-71, 2010.
Article in English | MEDLINE | ID: mdl-20404469

ABSTRACT

Invasive listeriosis predominantly affects pregnant women, neonates, elderly and people with a compromised immune function. For more than 80 years since the discovery of Listeria in 1924, only a few reports of invasive listeriosis in humans have emerged from India, with all of them in patients having an underlying predisposition. We, however, report Listeria monocytogenes meningoencephalitis in an immunocompetent, previously healthy, 20-month-old female child with no underlying predisposition. The patient showed poor response to empirical treatment with vancomycin and ceftriaxone but improved dramatically after substitution with ampicillin and amikacin. She had a complete recovery other than left lateral rectus palsy that persisted.


Subject(s)
Listeria monocytogenes/isolation & purification , Meningitis, Listeria/diagnosis , Anti-Bacterial Agents/therapeutic use , Female , Humans , India , Infant , Meningitis, Listeria/complications , Meningitis, Listeria/drug therapy , Meningitis, Listeria/microbiology , Paralysis , Treatment Outcome
14.
J Phys Condens Matter ; 22(2): 025503, 2010 Jan 20.
Article in English | MEDLINE | ID: mdl-21386257

ABSTRACT

Theoretical investigation of thermodynamic properties of an electrically modulated graphene monolayer in the presence of a perpendicular magnetic field B is presented. This work is aimed at determining the modulation-induced effects on the thermodynamic properties of graphene. The results obtained are compared with those of conventional two-dimensional electron gas (2DEG) systems realized in semiconductor heterostructures. The one-dimensional periodic potential, due to electric modulation lifts the degeneracy of the Landau levels and converts them into bands whose width oscillates as a function of B. We find commensurability (Weiss) oscillations for small values of B and de Haas-van Alphen (dHvA)-type oscillations at larger values of B. We find that the modulation-induced effects on the thermodynamic properties are enhanced and less damped with temperature in graphene compared with conventional 2DEG systems. Furthermore, we have derived analytic asymptotic expressions which allow us to determine the critical temperature and critical magnetic field for the damping of magnetic oscillations in the thermodynamic quantities considered here.

15.
J Med Genet ; 46(4): 242-8, 2009 Apr.
Article in English | MEDLINE | ID: mdl-18805830

ABSTRACT

BACKGROUND: Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS: DNA samples from 1445 unrelated patients submitted consecutively for clinical array comparative genomic hybridisation (CGH) testing at Children's Hospital Boston and DNA samples from 1441 individuals with autism from 751 families in the Autism Genetic Resource Exchange (AGRE) repository. RESULTS: We report the clinical features of five patients with a BP4-BP5 deletion, three with a BP4-BP5 duplication, and two with an overlapping but smaller duplication identified by whole genome high resolution oligonucleotide array CGH. These BP4-BP5 deletion cases exhibit minor dysmorphic features, significant expressive language deficits, and a spectrum of neuropsychiatric impairments that include autism spectrum disorder, attention deficit hyperactivity disorder, anxiety disorder, and mood disorder. Cognitive impairment varied from moderate mental retardation to normal IQ with learning disability. BP4-BP5 covers approximately 1.5 Mb (chr15:28.719-30.298 Mb) and includes six reference genes and 1 miRNA gene, while the smaller duplications cover approximately 500 kb (chr15:28.902-29.404 Mb) and contain three reference genes and one miRNA gene. The BP4-BP5 deletion and duplication events span CHRNA7, a candidate gene for seizures. However, none of these individuals reported here have epilepsy, although two have an abnormal EEG. CONCLUSIONS: The phenotype of chromosome 15q13.2q13.3 BP4-BP5 microdeletion/duplication syndrome may include features of autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment. Recognition of this broader phenotype has implications for clinical diagnostic testing and efforts to understand the underlying aetiology of this syndrome.


Subject(s)
Autistic Disorder/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 15/genetics , Intellectual Disability/genetics , Adolescent , Autistic Disorder/pathology , Child , Child, Preschool , Chromosome Deletion , Comparative Genomic Hybridization , Female , Gene Duplication , Humans , Infant , Intellectual Disability/pathology , Male , Phenotype , Young Adult
16.
Eur J Pediatr Surg ; 6(2): 114-9, 1996 Apr.
Article in English | MEDLINE | ID: mdl-8740138

ABSTRACT

The Currarino triad is a hereditary transmitted syndrome, originally defined by Currarino as ASP-association, consisting of an anorectal malformation, a sacral bony defect and a presacral mass. In most cases autosomal dominant transmission is suggested. In family members one or two features of the syndrome may be missing, indicating an incomplete form of this complex. We describe two unrelated girls at the age of 8 and 9 months respectively with ASP-association. Family screening in both patients showed 8 additional cases with a complete or incomplete Currarino triad, four of them being asymptomatic. A review of the literature up to 1991 revealed 48 patients with ASP-association. In more than 80% of cases, this complex is diagnosed in the first decade, whereas incomplete Currarino syndrome is diagnosed predominantly in adults. Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). The number of patients with Currarino syndrome has been underestimated so far. We recommend anorectal examination, pelvic ultrasound and pelvic x-rays in all patients with a history of chronic constipation since early childhood. Positive findings should lead to further investigations such as barium enema, MRI, myelography and family screening. Close cooperation between pediatric surgeons and neurosurgeons is required to ensure adequate surgical treatment, considering both the risk of malignant degeneration as well as the risk of intraoperative nerve damage. Thus, radical excisional surgery is not obligatory in every case of Currarino syndrome.


Subject(s)
Abnormalities, Multiple/genetics , Anal Canal/abnormalities , Meningocele/genetics , Rectum/abnormalities , Sacrum/abnormalities , Abnormalities, Multiple/epidemiology , Adult , Female , Genes, Dominant , Humans , Infant , Pedigree , Spinal Neoplasms/genetics , Syndrome , Teratoma/genetics
17.
Pediatr Radiol ; 26(4): 291-7, 1996.
Article in English | MEDLINE | ID: mdl-8677150

ABSTRACT

PURPOSE: A retrospective study was carried out in order to determine the role of sonography in establishing the diagnosis in extremity osteomyelitis. MATERIALS AND METHODS: The imaging documents of 24 infants and children aged from 2 weeks to 13 years with osteomyelitis (acute 21, chronic 3) were reviewed. Sonograms and conventional radiographs were available in all patients. Additional skeletal scintigraphy had been performed in 13 patients and MRI in only 3. Special emphasis was put on the different ultrasound findings and their onset in the course of disease. RESULTS: Intra-articular fluid collections (in 15 cases) and/or subperiosteal abscess formation (in 12) were the most frequent early sonographic findings, and preceded any radiographic changes by several days in 11 of these cases. Together with positive clinical signs of inflammation, they were usually sufficient to establish the correct diagnosis. In selected cases, fluid or abscess puncture for immediate microscopic and later bacteriological studies was carried out under sonographic control. In addition, sonography was also able to detect superficial cortical erosion and even an intramedullary focus in a very young patient. CONCLUSION: Ultrasonography is a very helpful tool for establishing the correct diagnosis in osteomyelitis and reducing the frequency of additional imaging studies.


Subject(s)
Osteomyelitis/diagnostic imaging , Child , Child, Preschool , Evaluation Studies as Topic , Extremities , Female , Humans , Infant , Infant, Newborn , Male , Osteomyelitis/diagnosis , Retrospective Studies , Ultrasonography
18.
Ultraschall Med ; 16(4): 196-9, 1995 Aug.
Article in German | MEDLINE | ID: mdl-7569862

ABSTRACT

With regard to injuries of the extremities caused by birth trauma, ultrasound allows simultaneous direct evaluation of the surface of osseous elements and of cartilaginous and soft-tissue structures as well. Thus, not only fractures, but also concomitant articular fluid collections, respectively haematomas and/or dislocation of an epiphysis are demonstrated in their initial extent and in their course of healing. Additionally, closed repositions, for instance of a displaced epiphysis, can be exactly monitored by ultrasound. A reduced number of roentgenograms as well as renunciation of other imaging modalities are the consequence. Own experiences in 4 patients with birth trauma to the humerus confirm the high validity of ultrasound in this area as well.


Subject(s)
Arm Injuries/diagnostic imaging , Birth Injuries/diagnostic imaging , Bony Callus/diagnostic imaging , Breech Presentation , Dystocia/diagnostic imaging , Elbow Joint/diagnostic imaging , Epiphyses, Slipped/diagnostic imaging , Female , Fracture Healing/physiology , Humans , Humeral Fractures/diagnostic imaging , Infant, Newborn , Male , Pregnancy , Shoulder Dislocation/diagnostic imaging , Shoulder Fractures/diagnostic imaging , Ultrasonography , Vacuum Extraction, Obstetrical , Elbow Injuries
19.
Radiology ; 188(2): 513-6, 1993 Aug.
Article in English | MEDLINE | ID: mdl-8327707

ABSTRACT

Over a period of 3 3/4 years, hydrostatic reduction of ileocolic intussusception was performed under sonographic guidance in 47 cases (a total of 41 consecutive patients). The enema consisted of a mixture of isotonic electrolyte solution and water-soluble contrast medium (9:1 ratio) and was given at a hydrostatic pressure of 80-100 cm water. Reduction was successful in 83% of cases (n = 39). Even initially remaining ileo-ileal intussusception could finally be reduced in two cases. No complications were observed. Since, in comparison with other conservative methods of reduction, the success rate was not substantially worse (versus that of pneumatic reduction) or was even higher (versus that of barium enema reduction), the method described can be recommended for wider use because of the substantial reduction in radiation exposure.


Subject(s)
Hydrostatic Pressure , Ileal Diseases/diagnostic imaging , Intussusception/diagnostic imaging , Child , Child, Preschool , Female , Humans , Ileal Diseases/therapy , Infant , Intussusception/therapy , Male , Ultrasonography
20.
Pediatr Radiol ; 22(6): 410-2, 1992.
Article in English | MEDLINE | ID: mdl-1437362

ABSTRACT

Within a period of 2.5 years, cystic structures in the choroid plexus were encountered at cerebral sonography in 70 neonates and babies (45 male, 25 female; 18 premature babies). Their prevalence in patients examined during the first 4 weeks of life (n = 55) was 3%. The size of the cysts ranged from 1-4 and, rarely, up to 7 mm. They were mostly solitary and unilateral. Follow-up sonograms over periods up to 13 months showed that most of the cysts persisted unchanged. A few disappeared (n = 7), while distinct increase in size was observed in 1 case. Since no additional sonographic changes were observed and none of the patients displayed any neurological abnormalities and no association existed with any other, particularly chromosomal, disease, such plexus cysts are postulated to represent a normal sonographic finding and do not require follow-up.


Subject(s)
Choroid Plexus , Cysts/diagnostic imaging , Brain Diseases/diagnostic imaging , Brain Diseases/epidemiology , Cysts/epidemiology , Female , Follow-Up Studies , Humans , Infant, Newborn , Male , Prevalence , Prospective Studies , Reference Values , Ultrasonography
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