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• The phenotypical spectrum of AP-4 deficiency includes seizures. • Epilepsy can arise beyond infancy, mostly with absence and focal motor seizures. • The prognosis of epilepsy is favourable. • Combined focal/generalized and reflex EEG abnormalities can occur. Patients with genetic deficiency of the adaptor protein complex 4 (AP-4) exhibit earlyonset developmental delay, spastic diplegia, intellectual disability, speech impairment. The phenotype overlaps with other hereditary spastic paraplegias and cerebral palsies. Febrile seizures are common at onset. Epilepsy has been described in more than half of cases, arising in early infancy often with status epilepticus, but no typical seizure semiology or electroencephalographic features have been identified thus far. We aimed to specifically investigate the epileptological characteristics of the syndrome to unveil possible biomarkers of seizure development and prognosis in AP-4 deficiency. Observational cohort study on patients with bi-allelic pathogenic variants in AP-4 subunits and epilepsy. We focused on the seizure semiology, electroencephalographic characteristics and response to antiseizure medications. Patients harboured pathogenic variants in AP4S1 (n = 5) or AP4M1 (n = 1). The phenotype included spastic paraparesis, intellectual disability, speech/language impairment, microcephaly, and MRI evidence of hypoplasia of the corpus callosum. In 66 % of the patients, febrile seizures preceded the onset of epilepsy, which spanned from infancy to adolescence (range=14 months-13 years). Absences (66 %) and focal motor seizures (50 %) were common. No patient met the criteria for drug-resistance. Peculiar electroencephalographic features arose after the epilepsy onset and persisted at long-term follow-up: bilateral and asynchronous focal discharges combined with independent diffuse spike-wave-discharges (100 %) and reflex abnormalities (66 %). In AP-4 complex disease, epilepsy could arise beyond early infancy, until adolescence, with variable combination of generalized and focal seizures. The prognosis was favourable. We observed a common electroencephalographic signature - combined focal/generalized and reflex abnormalities - which may constitute a biomarker of AP-4 deficiency with epilepsy, applicable to inform genetic testing and disentangle the differential diagnosis. [ABSTRACT FROM AUTHOR]

Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. This study is aimed to create a patient-derived human induced pluripotent stem cell (hiPSC) line with a specific nonsense mutation to better characterize the etiopathogenesis of the disease. [ABSTRACT FROM AUTHOR]

Hemorrhage due to delayed splenic rupture is a potentially fatal complication of nonoperative management of splenic injuries. Suboptimal postdischarge follow-up has made measuring the incidence of failed splenic salvage challenging. We hypothesized that readmission after splenic salvage is rare; however, readmissions for splenic conditions would be associated with a high rate of splenectomy. The National Readmission Database for 2016 and 2017 was queried for trauma admissions with the International Classification of Diseases 10th revision codes for splenic injury. Patients with missing discharge disposition, discharge to a short-term hospital, death during index admission, or admitted in December were excluded. The primary endpoint was nonelective 30-day readmission for splenic diagnoses after nonoperative management during the index admission. Outcomes collected included transfusions, complications, interventions at readmission, and mortality. There were 22,736 patients admitted for a traumatic splenic injury; 15,596 (68.6%) underwent no intervention, 2,261 (9.9%) were treated with embolization only, and 4,509 (19.8%) underwent splenectomy. The overall 30-day readmission rate was 8.4%, whereas the spleen-related readmission rate was 2.0%. For those treated with embolization or no intervention, the spleen-related 30-day readmission rate was 2.4%, with the majority (69.4%) occurring within 7 days of discharge. The most common complications were pleural effusion (23.0%), sepsis (4.4%), splenic abscess (3.9%), and splenic infarct (3.0%). Those patients readmitted for spleen-related diagnoses after undergoing splenic salvage during the index admission had a 22.3% rate of splenectomy and mortality of 1.6%. Readmission after splenic salvage is rare, with the majority presenting within 1 week of discharge. However, of those readmitted for spleen injury–related diagnoses there was a high rate of splenectomy. Patients managed with splenic salvage should be counseled on the risk of potential failure and need for readmission and operation after discharge. [ABSTRACT FROM AUTHOR]

The rapid spread of coronavirus disease 2019 in the United States led to a variety of mandates intended to decrease population movement and "flatten the curve." However, there is evidence some are not able to stay-at-home due to certain disadvantages, thus remaining exposed to both coronavirus disease 2019 and trauma. We therefore sought to identify any unequal effects of the California stay-at-home orders between races and insurance statuses in a multicenter study utilizing trauma volume data. A posthoc multicenter retrospective analysis of trauma patients presenting to 11 centers in Southern California between the dates of January 1, 2020, and June 30, 2020, and January 1, 2019, and June 30, 2019, was performed. The number of trauma patients of each race/insurance status was tabulated per day. We then calculated the changes in trauma volume related to stay-at-home orders for each race/insurance status and compared the magnitude of these changes using statistical resampling. Compared to baseline, there was a 40.1% drop in total trauma volume, which occurred 20 days after stay-at-home orders. During stay-at-home orders, the average daily trauma volume of patients with Medicaid increased by 13.7 ± 5.3%, whereas the volume of those with Medicare, private insurance, and no insurance decreased. The average daily trauma volume decreased for White, Black, Asian, and Latino patients with the volume of Black and Latino patients dropping to a similar degree compared to White patients. This retrospective multicenter study demonstrated that patients with Medicaid had a paradoxical increase in trauma volume during stay-at-home orders, suggesting that the most impoverished groups remain disproportionately exposed to trauma during a pandemic, further exacerbating existing health disparities. [ABSTRACT FROM AUTHOR]

The associations of exposure to air-pollutants and respiratory illness remains inconsistent and studies have not adequately addressed the non-linearity and delayed effects of exposure. This is a retrospective cohort study using linked routine health and pollution data collected between January 2018 and December 2021. Participants were patients who visited General Practice (GP) or accident and emergency (A&E) services for respiratory illness. Time-series analysis, distributed lagged models, was used to address the potential non-linearity and delayed effects of exposure. There were 114,930 GP and 9878 A&E respiratory visits. For every 10 μg/m3 increase in NO 2 and PM 2.5 above the WHO recommended 24-hr thresholds, the immediate relative risk of GP respiratory visits was 1.09 (95% CI: 1.07 to 1.05) and 1.06 (95% CI: 1.01 to 1.10), respectively. The respective relative risk of A&E visit was 1.10 (95% CI: 1.07 to 1.14) and 1.07 (95% CI: 1.00 to 1.14). Exposure to 10-unit increases in NO 2 , PM 2.5 and PM 10 above the WHO recommended 24-hr thresholds, was associated with lagged relative risks of 1.49 (95% CI: 1.42 to 1.56), 5.26 (95% CI: 4.18 to 6.61) and 2.32 (95% CI: 1.66 to 3.26), respectively, for GP respiratory attendances. The lagged relative risk of A&E respiratory visits for same units of exposure in NO 2 , PM 2.5 , and PM 10 at the peak lag days were 1.98 (95% CI: 1.82 to 2.15), 4.52 (95% CI: 3.37 to 6.07) and 3.55 (95% CI: 1.85 to 6.84). A third of GP and half of A&E respiratory visits were attributable to exposure to NO 2 beyond the WHO threshold. The combined cost of these visits over the study period was 1.95 million (95% CI: 1.82 to 2.09). High pollution events are related to increased health service use for respiratory illness, with impacts persisting up to 100 days post exposure. The burden of respiratory illness related to air-pollution may be considerably higher than previously reported. [Display omitted] • Exposure to air pollution has significant delayed effects on respiratory health. • Air pollution impacts healthcare attendance persisting up to 100 days post exposure. • The cost of health care for respiratory attendances was £2 million over four years. [ABSTRACT FROM AUTHOR]

Background Charcot-Marie-Tooth (CMT) neuropathies represent the most common forms of inherited polyneuropathies. CMT2A, the axonal form, accounts for about one third of all CMT cases. Variants in the MFN2 gene have been recognized to be a major cause of CMT2A. To date, more than 100 pathogenetic mutations in MFN2 have been identified, leading to different neurological clinical spectrum, varying from hereditary neuropathies to more severe clinical phenotypes. Pathogenic variants in MFN2 mainly act in a dominant manner, although in a few sporadic or familial cases, homozygous or compound heterozygous mutations have been reported. Results We describe a child carrying a novel homozygous MFN2 mutation leading to an early-onset sensorimotor axonal neuropathy with an atypical and severe phenotype. Conclusion The case highlights a very rare mechanism of inheritance for MFN2 mutations and expands the clinical and allelic variance of severe CMT2A phenotype. Moreover, it proposes the involvement of cerebellar peduncles observed at neuroimaging as a novel clue to suspect the diagnosis and address genetic testing. [ABSTRACT FROM AUTHOR]

Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1 . We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy. In both children neuroimaging detected a progressive cerebellar involvement accompanied by basal ganglia hyperintensities and pathological peak levels of lactate. In both patients, muscle biopsy showed diffuse reduction of cytochrome c oxidase stain, some atrophic fibers and type II fiber grouping. Using a targeted resequencing panel in next generation sequencing, we identified the homozygous c.1180G>A/p.Ala394Thr mutation in Pt1 and the c.2779-2A>C mutation in compound heterozygosity with the c.2809C>T/p.Arg937Cys mutation in Pt2. All variants were novel and segregated in the healthy parents. Expression of OPA1 protein was significantly reduced in muscle tissues of both patients by Western blotting. We also observed in patients' fibroblasts a higher proportion of fragmented and intermediate mitochondria upon galactose treatment compared to controls, as already seen in other patients harboring mutations in OPA1 . The presence of Leigh-like neuroimaging features is a novel finding in Behr syndrome and further adds to the complex genotype–phenotype correlations in OPA1 -associated disorders. [ABSTRACT FROM AUTHOR]

Microwave breast screening has been proposed as a complementary modality to the current standard of X-ray mammography. In this work, we design three ensemble classification structures that fuse information from multiple sensors to detect abnormalities in the breast. A principled Neyman–Pearson approach is developed to allow control of the trade-off between false positive rate and the false negative rate. We evaluate performance using data derived from measurements of heterogeneous breast phantoms. We also use data collected in a clinical trial that monitored 12 healthy patients monthly over an eight-month period. In order to assess the efficacy of the proposed algorithms we model scans of breasts with malignant lesions by artificially adding simulated tumour responses to existing scans of healthy volunteers. Tumour responses are constructed based on measured properties of breast tissues and real breast measurements, thus the simulation model takes into account the heterogeneity of the breast tissue. The algorithms we present take advantage of breast scans from other patients or tissue-mimicking breast phantoms to learn about breast content and what constitutes a “tumour-free” and “tumour-bearing” set of measurements. We demonstrate that the ensemble selection-based algorithm, which constructs an ensemble of the most informative classifiers, significantly outperforms other detection techniques for the clinical trial data set. [ABSTRACT FROM AUTHOR]

Charcot-Marie-Tooth type 4B3 (CMT4B3) is a rare subtype of hereditary neuropathy associated with variants in the MTMR5/SBF1 gene. Herein, we report the generation and characterization of a hiPSC line from a 12-year-old Italian girl with early onset severe polyneuropathy with motor and axonal involvement, harboring biallelic variants in the MTMR5/SBF1 gene. Fibroblasts were reprogrammed using non-integrating episomal plasmids, and iPSCs successfully passed the stemness and pluripotency tests. Patient-specific hiPSCs were produced to obtain a disease model for the study of this rare condition. [ABSTRACT FROM AUTHOR]

We describe a novel sporadic case of SPG56, a rare complicated form of HSP, that expands the clinical and molecular spectrum of the disease, being associated to novel mutations in CYP2U1 and showing as novel feature dorsal hydromyelia at spinal cord MRI. The patient presented an early-onset, slowly progressive paraparesis associated with mild mental retardation. Neurological assessments included the Spastic Paraplegia Rating Scale (SPRS), Mental Deterioration Battery (MDB), and Wechsler Adult Intelligence Scale (WAIS), neurophysiological and neuroimaging studies. Targeted next-generation sequencing panels for the whole set of genes associated with HSP were performed in the probands and her relatives. Neuroimaging studies showed dorsal hydromyelia but no brain MRI abnormalities. Targeted next-generation identified two novel mutations: the c.5C > A/p.S2* on the maternal allele in compound heterozygosity with the paternally-inherited c.1288+5G > C in CYP2U1. Both mutations predict early protein truncation and a loss of function. So far, only few SPG56 cases have been reported. This case, expands and further characterize the clinical and molecular spectrum of SPG56. In this regard, in consideration of the putative gene function in neurodevelopment, we suggest a causal association between CYP2U1 mutations and hydromyelia in our patient. [ABSTRACT FROM AUTHOR]

Introduction In vitro studies on the structure of human fetal membranes have involved light or electron microscopy with fixation, dehydration, and staining. Recently, optical coherence tomography (OCT), an imaging technology, has provided high-resolution cross-sectional images of living biological tissues, with a penetration of 2–3 mm. We evaluated the use of this technology to examine the histologic features of human fetal membranes immediately after delivery. Methods Samples of fetal membranes of ten patients undergoing cesarean deliveries (four uncomplicated pregnancies, four with preeclampsia, and two with chorioamnionitis) and eight patients undergoing vaginal deliveries (six uncomplicated pregnancies and two with chorioamnionitis) were collected immediately after delivery. Samples were stretched across customized disks, rinsed, and analyzed using a time-domain OCT imaging system. Following OCT scanning, the samples were placed in formalin for histologic study. The OCT images were compared to histologic images of common human fetal membrane features. Results We were able to delineate the layers of the fetal membranes using bench-top time-domain OCT. The system was able to image histologic features of the fetal membranes, such as microscopic chorionic pseudocysts, ghost villi, meconium stained membranes, and chorioamnionitis. The OCT images corresponded with the histologic findings. Discussion This feasibility study demonstrates the potential of OCT technology for real-time assessment of human fetal membranes and may provide clinically useful information at delivery. [ABSTRACT FROM AUTHOR]

Abstract: Background: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. Aim: We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes. Methods: Clinical and neuroimaging studies were performed. Blood DNA analyses were combined with mRNA studies in cultured skin fibroblasts. Results: Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs. He also developed bulbar involvement and severe scoliosis during childhood. In blood DNA we identified a novel splice-site homozygous mutation in ALS2 (c.3836+1G > T), producing exon skipping in fibroblast mRNA and predicting premature protein truncation. Conclusions: This case adds to the allelic heterogeneity of IAHSP. Review of the pertinent literature indicates a fairly homogeneous clinical picture in IAHSP that should facilitate molecular confirmation and prevention of long-term complications. [Copyright &y& Elsevier]

Cortical pain processing is associated with large-scale changes in neuronal connectivity, resulting from neural plasticity phenomena of which brain-derived neurotrophic factor (BDNF) is a central driver. The common single nucleotide polymorphism Val66Met is associated with reduced BDNF activity. Using the trigeminal pain-related evoked potential (tPREP) to repeated electrical painful stimuli, we investigated whether the methionine substitution at codon 66 of the BDNF gene was associated with changes in cortical processing of noxious stimuli. Fifty healthy volunteers were genotyped: 30 were Val/Val and 20 were Met-carriers. tPREPs to 30 stimuli of the right supraorbital nerve using a concentric electrode were recorded. The N2 and P2 component latencies and the N2-P2 amplitude were measured over the 30 stimuli and separately, by dividing the measurements in 3 consecutive blocks of 10 stimuli. The average response to the 30 stimuli did not differ in latency or amplitude between the 2 genotypes. There was a decrease in the N2-P2 amplitude between first and third block in the Val/Val group but not in Met-carriers. BDNF Val66Met is associated with reduced decremental response to repeated electrical stimuli, possibly as a result of ineffective mechanisms of synaptic memory and brain plasticity associated with the polymorphism. PERSPECTIVE: BDNF Val66Met polymorphism affects the tPREP N2-P2 amplitude decrement and influences cortical pain processing through neurotrophin-induced neural plasticity, or through a direct BDNF neurotransmitter-like effect. Our findings suggest that upcoming BDNF central agonists might in the future play a role in pain management. [ABSTRACT FROM AUTHOR]

Abstract: Childhood cerebellar ataxias, and particularly congenital ataxias, are heterogeneous disorders and several remain undefined. We performed a muscle biopsy in patients with congenital ataxia and children with later onset undefined ataxia having neuroimaging evidence of cerebellar atrophy. Significant reduced levels of Coenzyme Q10 (COQ10) were found in the skeletal muscle of 9 out of 34 patients that were consecutively screened. A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels. In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome. We think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at MRI. [Copyright &y& Elsevier]

Abstract: The autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy. Five patients with a molecular diagnosis of ARSACS underwent clinical, radiological, and ophthalmologic examinations. Every one of the identified causal mutations was novel. Spastic ataxia, peripheral neuropathy, pes cavus, and hammertoes were found in every case. T2 and T2-fluid attenuation inversion recovery-weighted MRI sequences demonstrated cerebellar atrophy and a hypointense linear striation at the pons. Tensor diffusion sequences revealed that the hypointense striation corresponded with hyperplasia of the pontocerebellar fibres, which gave place to abnormally thick middle cerebellar peduncles. Stereophotographs of the optic discs showed an increased number of retinal fibres, and ocular coherence tomography, increased thickness of the retinal nerve fibre layer. The authors suggest that the hyperplasic pontocerebellar fibres compress the pyramidal tracts at the pons since a very early stage of central nervous system development, causing spasticity, and may also cause cerebellar atrophy by means of glutamate-induced excitotoxicity. The abnormal amount of retinal fibres traversing the optic discs could have caused the detected mild peripheral visual field defects. Taken together, these facts point to a developmental cause in ARSACS, as it does not exhibit the tissue atrophy characteristic of degenerative diseases. Clinical deterioration in ARSACS seems to be mediated by phenomena (compression of the pyramidal tracts and cerebellar glutamate-mediated excitotoxicity) derived from the developmental anomalies referred to, while the neuromuscular symptoms are caused by a peripheral neuropathy with pathologic features suggestive of a similar origin. These observations should be taken into account when research about the origin of ARSACS is undertaken. [Copyright &y& Elsevier]

Abstract: Background: Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3. Liver histology is important, but not specific, for diagnosis. Genotyping is conclusive. Aim: To determine the pathogenetic role of two novel ABCB4 mutations in two unrelated children from North Africa and South Asia. Methods: In both children liver histology showed extensive ductular reaction with portal and periportal fibrosis. Immunohistochemical analysis displayed absence of MDR3 protein expression at the canalicular pole. Genotype analysis was performed. Results: Genotyping revealed two novel mutations in ABCB4: the c.1783 C>T (p.R595X) mutation in exon 15 was detected in compound heterozygosity with the c.937_992 in/del in exon 9 in one case, whereas the homozygous p.R595X mutation was recognized in the second child. Conclusions: Two novel loss-of-function mutations have been identified. Progressive familial intrahepatic cholestasis type 3 has a worldwide distribution and genetic analyses are conclusive for correct diagnosis. [Copyright &y& Elsevier]

• Primary progressive multiple sclerosis (PPMS) and hereditary spastic paraparesis (HSP) share several clinical features. Moreover, brain white matter changes might be an associated finding of some HSP variants. • However, the association of fully defined PPMS with genetically proven HSP has been demonstrated in a few cases. • Hereby, we present a case of two siblings, one of which was diagnosed with active PPMS that was treated with Disease Modifying Therapy. • Later on, his sister was diagnosed with HSP, based on her symptoms and the discovery of a new pathogenetic SPG7 mutation. The same mutation was then found in her brother. • If the presence of a new SPG7 mutation could alter the course of MS, representing a "double trouble" condition in our male patient, it remains unclear. Primary progressive multiple sclerosis (PPMS) presents with clinical signs of slowly progressive long tract dysfunction that can overlap with neurodegenerative disorders, such as hereditary spastic paraplegia (HSP). Herein, we present two siblings in whom we have identified a novel mutation in the paraplegin (SPG7) gene. The proband, a 49-year-old woman, presented with a five-year history of progressive spastic paraparesis and ataxia. Brain MRI showed mild cerebellar atrophy. The genetic study revealed a homozygous mutation in the SPG7 gene, that led to the diagnosis of HSP. Four years previously, the younger brother had complained of slowly progressive spastic-ataxic gait, that started one year before; MRI had disclosed multiple areas of white matter hyperintensity with contrast enhancement. A diagnosis of active PPMS was made, and the patient started Disease-Modifying Therapy with further clinical and radiological stability. Once a genetic diagnosis was achieved in his sister, the patient underwent SPG7 testing, which disclosed the same mutation. Whether MS is a mimicry of HSP or it represents "double trouble" condition in this patient, it remains undetermined. [ABSTRACT FROM AUTHOR]

Abstract: We detected a novel CLN1 mutation (c.125-15t>g) in two Italian siblings. The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures. Ultrastructurally, granular osmiophilic deposits were found in skin biopsy of both patients. The novel mutation occurs in the acceptor sequences for splicing and leads to skipping of multiple exons. This predicts a protein lacking part or all of the active site of the enzyme and the palmitate-binding pocket. Consequently, biochemical activity of the palmitoyl protein thioesterase-1 enzyme was drastically reduced. The new mutation was not identified in a large set of ethnically matched control chromosomes. Our findings support the notion that CLN1 patients are not rare in Southern Europe and facilitate DNA-based mutation and carrier testing in this family. [Copyright &y& Elsevier]

We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease. [Copyright &y& Elsevier]

Background: The rising cesarean birth rate has drawn attention to risks associated with repeat cesarean birth. Prevention of adhesions with adhesion barriers has been promoted as a way to decrease operative difficulty. However, robust data demonstrating effectiveness of such interventions are lacking.Objective: We report data from a multicenter trial designed to evaluate the short-term safety and effectiveness of a modified sodium hyaluronic acid (HA)-carboxymethylcellulose (CMC) absorbable adhesion barrier for reduction of adhesions following cesarean delivery.Study Design: Patients who underwent primary or repeat cesarean delivery were included in this multicenter, single-blinded (patient), randomized controlled trial. Patients were randomized into either HA-CMC (N = 380) or no treatment (N = 373). No other modifications to their treatment were part of the protocol. Short-term safety data were collected following randomization. The location and density of adhesions (primary outcome) were assessed at their subsequent delivery using a validated tool, which can also be used to derive an adhesion score that ranges from 0-12.Results: No differences in baseline characteristics, postoperative course, or incidence of complications between the groups following randomization were noted. Eighty patients from the HA-CMC group and 92 controls returned for subsequent deliveries. Adhesions in any location were reported in 75.6% of the HA-CMC group and 75.9% of the controls (P = .99). There was no significant difference in the median adhesion score; 2 (range 0-10) for the HA-CMC group vs 2 (range 0-8) for the control group (P = .65). One third of the HA-CMC patients met the definition for severe adhesions (adhesion score >4) compared to 15.5% in the control group (P = .052). There were no significant differences in the time from incision to delivery (P = .56). Uterine dehiscence in the next pregnancy was reported in 2 patients in HA-CMC group vs 1 in the control group (P = .60).Conclusion: Although we did not identify any short-term safety concerns, HA-CMC adhesion barrier applied at cesarean delivery did not reduce adhesion formation at the subsequent cesarean delivery. [ABSTRACT FROM AUTHOR]

Abstract: Mitochondrial DNA (mtDNA) depletion is a profound reduction of mtDNA copy number. The mtDNA depletion syndromes (MDS) are a heterogeneous group of severe mitochondrial disorders of infancy and childhood. There are three main clinical presentations of MDS: myopathic, hepatocerebral and encephalomyopathic. Almost 60% of our MDS patients have been genetically characterised, and a strict association has been found between the encephalomyopathic MDS, SUCLA2 mutations and mild methylmalonic aciduria. The content of this manuscript refers to the Joint Conference (Ospedale Bambino Gesù/Mayo Eugenio Litta Children''s Hospital ) held in May 9–11, 2007. [Copyright &y& Elsevier]

BACKGROUND/OBJECTIVES: Animal-assisted therapy has been advocated in various healthcare facilities, including long-term care facilities and pediatric institutions. Dogs and cats are the most commonly used animals in these programs. Several years ago, we demonstrated the presence of multiple bacteria colonizing various animals used for animal-assisted therapy. Surprisingly, several dogs and cats were found to harbor MRSA. With the emerging problem of community-acquired MRSA, we decided to re-visit local animal grooming clinics to determine if dogs and cats might be possible carriers of MRSA. METHODS: All pets cultured were healthy and had not received antibiotics in the previous 30 days. Using standard microbiological techniques, cultures were obtained from the noses, mouths, and fur of 22 dogs and 20 cats. Staphylococcus aureus (SA) isolates were tested for methicillin sensitivity by standard MICs. RESULTS: All 42 animals were colonized with SA. Seven (16%) of the 42 isolates obtained were resistant to methicillin. CONCLUSIONS: Although dogs and cats have not previously been associated with MRSA colonization or infections, the isolation of this microorganism in our study is intriguing. [Copyright &y& Elsevier]