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2.
Nat Ecol Evol ; 7(1): 62-70, 2023 01.
Article in English | MEDLINE | ID: mdl-36593293

ABSTRACT

Indonesia, the most mangrove-rich nation in the world, has proposed the most globally ambitious mangrove rehabilitation target (600,000 ha) of any nation, to be achieved by 2024 to support multiple Sustainable Development Goals (SDG 1-3, 6, 13 and 14). Yet, mangrove restoration and rehabilitation across the world have often suffered low success rates and been applied at small scales. Here, we identify 193,367 ha (estimated costs at US$0.29-1.74 billion) that have the potential to align with the national mangrove rehabilitation programme. Despite being only 30% of the national target, our robust assessment considered biogeomorphology, 20 years of land-use and land-cover change and state forest land status, all key factors moderating mangrove restoration success which have often been neglected in Indonesia. Increasing subnational government representation in mangrove governance as well as improving monitoring and evaluation will increase the likelihood of achieving the mangrove rehabilitation targets and reduce risks of failure. Rehabilitating and conserving mangroves in Indonesia could benefit 74 million coastal people and can potentially contribute to the national land-sector emissions reduction of up to 16%.


Subject(s)
Sustainable Development , Wetlands , Humans , Indonesia , Conservation of Natural Resources , Forests
3.
Food Chem Toxicol ; 146: 111833, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33129935

ABSTRACT

The induction of vomiting by activation of mechanisms protecting the body against ingested toxins is not confined to natural products but can occur in response to manmade medicinal and non-medicinal products such as liquid cleaning products where it is a commonly reported adverse effect of accidental ingestion. The present study examined the utility of an historic database (>30 years old) reporting emetic effects of 98 orally administered liquid cleaning formulations studied in vivo (canine model) to objectively identify the main pro-emetic constituents and to derive a predictive model. Data were analysed by categorizing the formulation constituents into 10 main groups followed by using multivariate correlation, partial least squares and recursive partitioning analysis. Using the ED50 we objectively identified high ionic strength, non-ionic surfactants (alcohol ethoxylate) and alkaline pH as the main pro-emetic factors. Additionally, a mathematical model was developed which allows prediction of the ED50 based on formulation. The limitations of the use of historic data and the model are discussed. The results have practical applications in new product formulation and safety but additionally the principles underpinning this in silico study have wider applicability in demonstrating the potential utility of such archival data in current research contributing to animal replacement.


Subject(s)
Computer Simulation , Detergents/toxicity , Vomiting/chemically induced , Humans
4.
Food Chem Toxicol ; 143: 111553, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32645462

ABSTRACT

Accidental ingestion of household cleaning products frequently results in emesis but the physicochemical properties responsible are not known. To investigate whether data collected during in vivo animal studies performed >30 years ago could provide novel insights into the components responsible, we re-analysed original studies from a total of 74 liquid cleaning formulations. The incidence of emesis was dose-related with ED50 values between 0.012 and 8.4 ml/kg and 57% of formulations having an ED50 ≤ 1 ml/kg. The median latency for emesis was 10.0 min (95% CI, 8-12 min) and number of vomits in 60 min ranged from 1 to 10 (median 2). From the ED100, latency and number of vomits we derived a "vomiting index" (VI) for a subset of 15 formulations which revealed an association between a high VI, a high percentage of non-ionic surfactants/high ionic strength, and a pH of ~10 which we propose are causally linked with the possible mechanism(s) discussed. The limitations of using historic data are discussed but analysis of such data has provided novel insights into the emetic characteristics of this class of products and has informed the development of an in silico model to predict the emetic liability of novel formulations without additional in vivo studies.


Subject(s)
Algorithms , Computer Simulation , Detergents/toxicity , Vomiting/chemically induced , Animals
5.
Glob Chang Biol ; 26(5): 3028-3039, 2020 05.
Article in English | MEDLINE | ID: mdl-32112604

ABSTRACT

Globally, carbon-rich mangrove forests are deforested and degraded due to land-use and land-cover change (LULCC). The impact of mangrove deforestation on carbon emissions has been reported on a global scale; however, uncertainty remains at subnational scales due to geographical variability and field data limitations. We present an assessment of blue carbon storage at five mangrove sites across West Papua Province, Indonesia, a region that supports 10% of the world's mangrove area. The sites are representative of contrasting hydrogeomorphic settings and also capture change over a 25-years LULCC chronosequence. Field-based assessments were conducted across 255 plots covering undisturbed and LULCC-affected mangroves (0-, 5-, 10-, 15- and 25-year-old post-harvest or regenerating forests as well as 15-year-old aquaculture ponds). Undisturbed mangroves stored total ecosystem carbon stocks of 182-2,730 (mean ± SD: 1,087 ± 584) Mg C/ha, with the large variation driven by hydrogeomorphic settings. The highest carbon stocks were found in estuarine interior (EI) mangroves, followed by open coast interior, open coast fringe and EI forests. Forest harvesting did not significantly affect soil carbon stocks, despite an elevated dead wood density relative to undisturbed forests, but it did remove nearly all live biomass. Aquaculture conversion removed 60% of soil carbon stock and 85% of live biomass carbon stock, relative to reference sites. By contrast, mangroves left to regenerate for more than 25 years reached the same level of biomass carbon compared to undisturbed forests, with annual biomass accumulation rates of 3.6 ± 1.1 Mg C ha-1  year-1 . This study shows that hydrogeomorphic setting controls natural dynamics of mangrove blue carbon stocks, while long-term land-use changes affect carbon loss and gain to a substantial degree. Therefore, current land-based climate policies must incorporate landscape and land-use characteristics, and their related carbon management consequences, for more effective emissions reduction targets and restoration outcomes.


Subject(s)
Carbon , Ecosystem , Biomass , Conservation of Natural Resources , Forests , Indonesia , Wetlands
6.
Eur Rev Med Pharmacol Sci ; 23(14): 6035-6044, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31364105

ABSTRACT

OBJECTIVE: This is a pilot study to evaluate the effectiveness of the treatment with Vaginal Soft gels technology in the improvement of common signs and symptoms in postmenopausal, postpartum and with recurrent vulvovaginitis patients. These conditions may cause the onset of Vulvovaginal Atrophy (VVA) with effects on sexual activity, self-confidence and daily activities. The main symptoms are itching, irritation and dryness. Many therapies have been evaluated and almost all those without hormonal component have shown poor results. PATIENTS AND METHODS: Women diagnosed with severe VVA from January to September 2018 were recruited. The study groups were composed of 25 postmenopausal women, 30 post-partum women and 30 women with recurrent vulvovaginitis. For each group, patients were randomized 1:1 among those who carried out the experimental treatment and those that did not perform it. The efficacy of treatment was evaluated with a clinical visit in which Vaginal Health Index (VHI) was estimated. The symptomatology was determined through the questionnaire Female Sexual Function Index (FSFI). RESULTS: A significant improvement has been shown with regard to the sexual function (orgasm, lubrification, pain) in patients who performed the treatment. A significant increase in VHI has been evaluated in postmenopausal patients (4 months p=0.054, 6 months p=0.005) and in recurrent vulvovaginitis but not in post-partum patients (4 months p=0.681, 6 months p=0.109). An improvement of lubrication, satisfaction, orgasm, pain, as well as dyspareunia, was observed in the three study groups. CONCLUSIONS: In this pilot study the treatment with soft gels seems to be effective in improving sexual health and atrophy being a treatment available for all types of patients thanks to the absence of systemic and local side effects. It is an excellent alternative especially for patients who cannot use hormones. These findings must be confirmed by larger and randomized further studies.


Subject(s)
Atrophic Vaginitis/prevention & control , Vaginal Creams, Foams, and Jellies/administration & dosage , Vulvovaginitis/drug therapy , Vulvovaginitis/psychology , Adult , Atrophic Vaginitis/psychology , Equipment Design , Female , Humans , Middle Aged , Pilot Projects , Postmenopause , Postpartum Period , Random Allocation , Treatment Outcome , Vaginal Creams, Foams, and Jellies/chemistry , Vulvovaginitis/complications , Young Adult
7.
Mol Ecol ; 21(23): 5702-14, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23110353

ABSTRACT

Positive selection leaves characteristic footprints on DNA variation but detecting such patterns is challenging as the age, the intensity and the mode of selection as well as demography and evolutionary parameters (mutation and recombination rates) all play roles and these are difficult to disentangle. We recorded nucleotide variation in a sample of isogenic chromosomes from a western African population of Drosophila melanogaster at a locus (Fbp2) for which a partial selective sweep had previously been reported. We compared this locus to four other genes from the same chromosomes and from a European and an East African population. Then, we assessed Fbp2 variation in a sample of 370 chromosomes covering a comprehensive geographic sampling of 16 African localities. The signature of selection was tested while accounting for the demographic history of the populations. We found a significant signal of selection in two West African localities including Ivory Coast. Variation at Fpb2 would thus represent a case of an ongoing selective sweep in the range of this species. A weaker, nonsignificant, signal of selection was, however, apparent in some other populations, thus leaving open several possibilities: (i) the selective sweep originated in Ivory Coast and has spread to the rest of the continent; (ii) several African populations report the signature of a selective event having occurred in an ancestral population; (iii) this genome region is subject to independent selective events in African populations; and (iv) A neutral scenario with population subdivision and local bottleneck cannot be fully excluded to explain the molecular patterns observed in some populations.


Subject(s)
Drosophila melanogaster/genetics , Genetic Variation , Selection, Genetic , Africa, Western , Animals , Chromosomes, Insect , Cote d'Ivoire , Drosophila Proteins/genetics , Genetics, Population , Haplotypes/genetics , Molecular Sequence Data , Polymorphism, Genetic , Recombination, Genetic
10.
Spinal Cord ; 45(12): 793-6, 2007 Dec.
Article in English | MEDLINE | ID: mdl-17637763

ABSTRACT

STUDY DESIGN: Case reports and review of the literature. OBJECTIVE: Intramedullary spinal cord metastases (ISCMs) are rare type of central nervous system (CNS) involvement of systemic malignant tumors. Since the advent of new neuroradiological techniques, their detection have become increasingly diagnosed in recent years and, although somewhat controversial, surgical treatment has been considered a valid option. SETTING: Neurosurgical Clinic, Department of Clinic Neuroscience, University of Palermo, Italy. METHOD: The authors describe the case of a 61-year-old woman who was admitted presenting with progressive tetraplegia. Investigations revealed an intramedullary spinal cord lesion at the cervical level. Magnetic resonance imaging of the brain did not reveal other CNS metastatic lesions. RESULT: Patient underwent surgical treatment. The tumor was resected and the patient's neurologic deficits slowly improved. Histological examination of the lesion showed the typical features of a colon carcinoma metastasis. Patient was referred for proper oncological treatment but, unfortunately, she died of disseminated disease within 2 months. CONCLUSION: Although uncommon, spinal cord metastases should be considered in the differential diagnosis of ISCM in order to rationalize the decisional-making process and improve the quality of life for these patients.


Subject(s)
Carcinoma/secondary , Colonic Neoplasms/pathology , Spinal Cord Neoplasms/secondary , Carcinoma/pathology , Carcinoma/surgery , Colonic Neoplasms/surgery , Fatal Outcome , Female , Humans , Laminectomy , Magnetic Resonance Imaging , Middle Aged , Neurologic Examination , Quadriplegia/etiology , Spinal Cord Neoplasms/pathology , Spinal Cord Neoplasms/surgery
11.
Opt Express ; 15(18): 11750-5, 2007 Sep 03.
Article in English | MEDLINE | ID: mdl-19547536

ABSTRACT

In this paper, we investigate the use of nonlinear distortion of the electrical post-detection signal in order to design simple, yet very effective, maximum likelihood sequence detection (MLSD) receivers for optical communications with direct photo-detection. This distortion enables the use of standard Euclidean branch metrics in the Viterbi algorithm which implements MLSD. Our results suggest that the nonlinear characteristic can be optimized with respect to the uncompensated chromatic dispersion and other relevant system parameters, such as the extinction ratio. The proposed schemes with optimized distortion exhibit the same performance of more sophisticated MLSD schemes, still guaranteeing more efficient Viterbi algorithm implementation.

13.
J Neurooncol ; 72(3): 273-80, 2005 May.
Article in English | MEDLINE | ID: mdl-15937653

ABSTRACT

With the advent of fast imaging hardware and specialized software, additional non-invasive magnetic resonance characterization of tumors has become available through proton magnetic resonance spectroscopy (MRS), hemodynamic imaging and diffusion-weighted imaging (DWI). Thus, patterns could be discerned to discriminate different types of tumors and even to infer their possible evolution in time. The purpose of this study was to investigate the correlation between MRS, DWI, histopathology and Ki-67 labeling index in a large number of brain tumors. Localized proton spectra were obtained in 47 patients with brain tumors who subsequently underwent surgery (biopsy or tumor removal). We performed MRS with short echo-time (30 ms) and metabolic values in spectra were measured using an external software with 25 peaks. In all patients who had DWI, we measured apparent diffusion coefficients (ADC) in the same region of interest (ROI) where the voxel in MRS was located. In most tumors the histological diagnosis and Ki-67 labeling index had been determined on our original surgical specimen. Cho/Cr, (Lip+Mm)/Cr, NAA/(Cho+Cr) and Glx/Cr indexes in MRS allowed discriminating between low- and high-grade gliomas and metastases (MTs). Likewise, absolute ADC values differentiated low- from high-grade gliomas expressed by Ki-67 labeling index. A novel finding was that high Glx/Cr in vivo MRS index (similar to other known indexes) was a good predictor of tumor grading.


Subject(s)
Aspartic Acid/analogs & derivatives , Brain Neoplasms/diagnosis , Ki-67 Antigen , Adult , Aged , Aspartic Acid/metabolism , Brain Neoplasms/chemistry , Brain Neoplasms/pathology , Cell Proliferation , Choline/metabolism , Creatinine/metabolism , Diffusion Magnetic Resonance Imaging , Female , Humans , Image Processing, Computer-Assisted , Lipid Metabolism , Magnetic Resonance Spectroscopy , Male , Middle Aged
14.
Rev. argent. radiol ; 69(2): 69-75, abr.2005. ilus, tab
Article in Spanish | LILACS | ID: lil-421683

ABSTRACT

Propósito: Evaluar el comportamiento de diferentes entidades neurológicas utilizando imágenes ponderando tensor de difusión (ITD) y determinar si el método aporta información adicional a las imágenes de RM convencional. Material y método: Se estudiaron 8 pacientes portadores de distintas patologías encefálicas (5 casos de tumores, 1 paciente con esclerosis múltiple (EM), 1 paciente con enfermedad de Creutzfeldt-Jakob, variante esporádica (C-Je) y 1 paciente con intoxicación subaguda por monóxido de carbono (intoxicación por CO) en un equipo de RM de 1,5 T, utilizando secuencias convencionales e ITD con 25 direcciones. Se obtuvieron mapas cualitativos y se cuantificó la anisotropía fraccional (AF) ubicando diferentes regiones de interés según guías anatómicas específicas (cápsulas interna y externa, fibras frontocallosas y temporales, etc). Resultados: En los pacientes con tumores encefálicos, se observó disminución de AF sobre las fibras peritumorales, con distorción y/o disrupción de las mísmas. En los casos de EM, C-Je e intoxicación por CO, notamos interrupción parcial en el trayecto de los haces de sustancia blanca (SB) involucrados. Sin embargo, existió importante discordancia entre los hallazgos en FLAIR y Difusión (DWI) y en ITD, en el caso de intoxicación subaguda por CO. Conclusión: Las ITD, tanto cuali como cuantitativas aportan mayor información que las secuencias convencionales sobre la morfología ultraestructural del tejido cerebral en las patologías estudiadas. Además, estas imágenes constituyen la base de otra técnica de RM, actualmente en desarrollo, como lo es la Tractografía


Subject(s)
Adult , Humans , Middle Aged , Brain Neoplasms , Multiple Sclerosis/diagnosis , Creutzfeldt-Jakob Syndrome/diagnosis , Glioblastoma , Glioma, Subependymal , Magnetic Resonance Imaging/methods , Oligodendroglioma
15.
Rev. argent. radiol ; 69(2): 69-75, abr.2005. ilus, tab
Article in Spanish | BINACIS | ID: bin-828

ABSTRACT

Propósito: Evaluar el comportamiento de diferentes entidades neurológicas utilizando imágenes ponderando tensor de difusión (ITD) y determinar si el método aporta información adicional a las imágenes de RM convencional. Material y método: Se estudiaron 8 pacientes portadores de distintas patologías encefálicas (5 casos de tumores, 1 paciente con esclerosis múltiple (EM), 1 paciente con enfermedad de Creutzfeldt-Jakob, variante esporádica (C-Je) y 1 paciente con intoxicación subaguda por monóxido de carbono (intoxicación por CO) en un equipo de RM de 1,5 T, utilizando secuencias convencionales e ITD con 25 direcciones. Se obtuvieron mapas cualitativos y se cuantificó la anisotropía fraccional (AF) ubicando diferentes regiones de interés según guías anatómicas específicas (cápsulas interna y externa, fibras frontocallosas y temporales, etc). Resultados: En los pacientes con tumores encefálicos, se observó disminución de AF sobre las fibras peritumorales, con distorción y/o disrupción de las mísmas. En los casos de EM, C-Je e intoxicación por CO, notamos interrupción parcial en el trayecto de los haces de sustancia blanca (SB) involucrados. Sin embargo, existió importante discordancia entre los hallazgos en FLAIR y Difusión (DWI) y en ITD, en el caso de intoxicación subaguda por CO. Conclusión: Las ITD, tanto cuali como cuantitativas aportan mayor información que las secuencias convencionales sobre la morfología ultraestructural del tejido cerebral en las patologías estudiadas. Además, estas imágenes constituyen la base de otra técnica de RM, actualmente en desarrollo, como lo es la Tractografía (AU)


Subject(s)
Adult , Humans , Middle Aged , Brain Neoplasms/diagnosis , Multiple Sclerosis/diagnosis , Creutzfeldt-Jakob Syndrome/diagnosis , Magnetic Resonance Imaging/methods , Oligodendroglioma/diagnosis , Glioma, Subependymal/diagnosis , Glioblastoma/diagnosis
16.
Acta Neurochir (Wien) ; 146(10): 1113-8; discussion 1118, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15309586

ABSTRACT

AIMS: In the recent decades many studies have been addressed in the literature to assess specific factors related to glioblastoma multiforme (GBM) invasion. However, few studies have evaluated tumour cell's interaction with specific extracellular matrix (ECM) components, and, moreover, there is a lack of information regarding the occurrence of these phenomena in paediatric GBM. METHODS AND RESULTS: ECM proteins were evaluated in six cases of paediatric GBM assessing the immunohistochemical expression of laminin, fibronectin, and type IV collagen. We used a semiquantitative scale, ranging from not detected (zero) to marked (3). Laminin expression was minimal in three cases, moderate in one case, marked and generalised in one patient and marked and focal in the last case. Fibronectin expression was minimal in three patients; moderate immunoreactivity was documented in one case. Conversely, one case was classified as marked with generalised distribution and the remaining case as marked with focal immunostaining. Type IV collagen expression was minimal in three cases, moderate in one, marked with focal reaction in one and marked with generalised reaction in the remaining case. CONCLUSIONS: This study provides additional insights into tumour invasion features of paediatric GBM, as ECM plays a pivotal role in numerous cellular functions during normal and pathological processes. Although based on a limited number of patients, this investigation may serve as a challenge for the management of paediatric GBM, stimulating trials with larger patient numbers aimed at documenting specific factors influencing GBM prognosis.


Subject(s)
Biomarkers, Tumor/metabolism , Brain Neoplasms/metabolism , Extracellular Matrix Proteins/metabolism , Glioblastoma/metabolism , Neoplasm Invasiveness/physiopathology , Brain Neoplasms/pathology , Brain Neoplasms/physiopathology , Child , Child, Preschool , Collagen Type IV/metabolism , Female , Fibronectins/metabolism , Glioblastoma/pathology , Glioblastoma/physiopathology , Headache/etiology , Humans , Immunohistochemistry , Laminin/metabolism , Male , Papilledema/etiology , Predictive Value of Tests , Prognosis , Reflex, Babinski/etiology , Retrospective Studies , Seizures/etiology , Unconsciousness/etiology
17.
Acta Neurochir (Wien) ; 145(3): 201-8; discussion 208, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12632116

ABSTRACT

BACKGROUND: Growing Skull Fractures (GSF) are rare complications of head trauma, primarily reported in infancy and early childhood. GSF are commonly located on calvaria, and rarely in other locations, including the skull base. METHOD: In this study, we report two cases of GSF occurring in unusual locations. The first, a 8-month old girl, with a GSF of the suboccipital posterior fossa region, and the second, a 4-year old boy with a GSF of the right orbital roof. Both cases underwent operative treatment of the GSF, with microsurgical dissection and excision of the protruding gliotic brain tissue, watertight duraplasty and autologous bone cranial repair. The authors conducted a Medline search of the relevant English literature from 1966 to 2002. FINDINGS: From the search, three cases of suboccipital posterior fossa region GSF and twelve series of orbital GSF, describing a total of 22 cases, have been found. INTERPRETATION: A survey of the pathogenic mechanisms underlying this entity in these locations is reported. A review of suboccipital posterior fossa and orbital roof GSF cases, of nosological, ophthalmological and neurological data, neuroradiological and operative findings, and results of different treatment strategies are described.


Subject(s)
Cranial Fossa, Posterior/injuries , Cranial Fossa, Posterior/physiopathology , Head Injuries, Closed/physiopathology , Head Injuries, Closed/surgery , Orbital Fractures/physiopathology , Orbital Fractures/surgery , Skull Fractures/physiopathology , Skull Fractures/surgery , Child, Preschool , Cranial Fossa, Posterior/surgery , Female , Head Injuries, Closed/diagnostic imaging , Humans , Infant , Male , Orbital Fractures/diagnostic imaging , Skull Fractures/diagnostic imaging , Tomography, X-Ray Computed
18.
Clin Auton Res ; 12(6): 450-6, 2002 Dec.
Article in English | MEDLINE | ID: mdl-12598949

ABSTRACT

We studied five patients with clinical and radiological evidence of syringobulbia (SB) to determine whether the distribution of lesions in relationship to the cardiorespiratory control networks in the medullary intermediate reticular zone (IRt) correlates with the presence of abnormalities in autonomic cardiovascular and respiratory control in these patients. All patients underwent high resolution MRI to characterize the size, volume and distribution of the SB lesions, cardiovascular autonomic function testing and polysomnography. One patient with bilateral IRt involvement at both the rostral and caudal medulla had orthostatic hypotension (OH), absent HR(DB), abnormal Valsalva ratio, exaggerated fall of BP during phase II and absent phase IV during VM, and a dramatic fall of BP during head up tilt; this patient also had severe obstructive sleep apnea (OSA) and exhibited BP drops during each respiratory effort. A second patient, with bilateral IRt involvement restricted to the caudal medulla, had less severe cardiovascular autonomic dysfunction but also exhibited severe OSA. The other three patients had small SB cavities sparing the IRt and had sleep apnea but no autonomic dysfunction. Autonomic dysfunction could not be related to the size of the syrinx or the degree of atrophy in the cervical spinal cord in any of the five patients. Bilateral involvement of the IRt by SB produces cardiovascular autonomic failure and sleep apnea. In patients with more restricted lesions, autonomic and respiratory dysfunction may be dissociated. Clinico-radiological correlations using high resolution MRI assessment of medullary lesions can provide insight into the central organization of cardiovascular and respiratory control in humans.


Subject(s)
Cardiovascular System/physiopathology , Medulla Oblongata , Respiratory System/physiopathology , Reticular Formation/physiopathology , Syringomyelia/physiopathology , Adult , Autonomic Nervous System/physiopathology , Female , Humans , Magnetic Resonance Imaging , Male , Medulla Oblongata/pathology , Middle Aged , Polysomnography , Sleep Apnea Syndromes/etiology , Sleep Apnea Syndromes/physiopathology , Syringomyelia/complications , Syringomyelia/diagnosis
19.
Neuromuscul Disord ; 11(6-7): 570-8, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11525887

ABSTRACT

Classical merosin (2 laminin)-positive congenital muscular dystrophy is a heterogeneous subgroup of disorders; a few cases characterized by severe mental retardation, brain involvement and no ocular abnormalities were called Fukuyama-like congenital muscular dystrophy. We report a family of healthy non-consanguineous parents, with four affected siblings, of which one died at the age of 7 months due to an intercurrent illness, who presented congenital hypotonia, severe mental retardation, microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia. Muscle biopsy disclosed severe muscular dystrophy. Immunostaining for laminin 2 80 kDa and clone Mer3/22B2 monoclonal antibodies, 1 and 1 chain was preserved. Magnetic resonance imaging findings were consistent with pontocerebellar hypoplasia, bilateral opercular abnormalities and focal cortical dysplasia as well as minute periventricular white matter changes. Clusters of small T2-weighted focal hyperintensities in both cerebellar hemispheres consistent with cysts were observed in two of the three siblings studied with magnetic resonance imaging. Ophthalmologic and cardiologic examination was normal. Haplotype analysis using microsatellite markers excluded the Fukuyama congenital muscular dystrophy, LAMA2 and muscle-eye-brain disease loci. Thus, a wider spectrum of phenotypes, gene defects and protein deficiencies might be involved in congenital muscular dystrophy with brain abnormalities.


Subject(s)
Intellectual Disability/genetics , Laminin/analysis , Microcephaly/genetics , Muscular Dystrophies/genetics , Biopsy , Brain/abnormalities , Child , Facies , Family Health , Female , Haplotypes , Humans , Intellectual Disability/pathology , Male , Microcephaly/pathology , Muscle, Skeletal/chemistry , Muscle, Skeletal/pathology , Muscular Dystrophies/congenital , Muscular Dystrophies/pathology , Nuclear Family , Pedigree
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