11 research outputs found
Brachial plexus lesions: Anatomical knowledge as an essential diagnostic tool in a situation of limited imaging facilities
Diagnosing brachial plexus lesion is a challenge in countries where imaging facilities are not well developed. Here we report 3 cases of different lesions of the brachial plexus sustained after a road traffic crush. The first case presented with a lesion of the 3 primary trunks of the right brachial plexus. The clinical examination showed paralysis of all terminal nerves of the brachial plexus and the collateral branches of both anterior and posterior brachial plexus. The second patient showed paralysis of all muscles of the shoulder and muscles of the anterior compartment of the arm. This clinical feature is in accordance of the upper brachial trunk lesion. The third patient had paralysis of muscles of the hand being innerved by median nerve or ulna nerve. He showed also paralysis of muscles of the anterior compartment of the forearm and anaesthesia of the medial region of hand and forearm. This clinical feature was in conformity with a lesion of inferior primary trunk. All diagnoses were made based on the clinical findings. These cases demonstrate the significance of a through anatomical knowledge in the clinical examination if one has to avoid confusing the signs of terminal nerves lesion with the trunk’s lesion. These cases underscore the importance of applied anatomy in clinical situations
Poland’s Syndrome: A case report
Poland’s Syndrome is a rare congenital condition. It is classically characterized by absence of unilateral chest wall muscles and sometimes ipsilateral symbrachydactyly (abnormally short and webbed fingers). The condition typically presents with unilateral absence of the sternal or breastbone portion of the pectoralis major muscle which may or may not be associated with the absence of nearby musculoskeletal structures. We report a 12-year-old boy patient with typical features of Poland syndrome. To the best of our knowledge, this is the first documented case of a patient with Poland syndrome reported from Rwanda
Contribution à l'étude des caspases au cours de l'apoptose physiologique et induite par l'acide rétinoïque et l'irradiation lors du développement crânio-facial précoce: corrélation avec la protéine HSP110
Doctorat en Sciences médicalesinfo:eu-repo/semantics/nonPublishe
An Unusual Case Of Conjoined Twins
Conjoined twins are not a usual anomaly seen at birth and certainly
people may have different or wrong beliefs about this malformation
especially when seen for the first time. In this article, we review
some important cases of conjoined twins in the history and we present a
very rare case of parapagus united twins after an overview of
literature. We will end up with a short discussion and conclusion.Les jumeaux siamois ne sont pas une anomalie habituellement
constatée à la naissance et ils peuvent susciter des
convictions différentes ou erronées à des gens
différents, surtout lorsque vus pour la première fois. Dans
cet article on passe en revue quelques cas intéressants de jumeaux
conjoints décrits dans l’histoire, la littérature et on
presente un cas très rare de jumeaux conjoints parapagus. On
terminera par une brève discussion et conclusion
Prune-Belly Syndrome: A Case Report from Rwanda
Background: Prune-Belly syndrome, Eagle-Barret syndrome and triad syndrome, all refer to congenital anomalies involving abdominal musculature, urinary tract and testicles. The syndrome consists of a triad of abdominal muscle aplasia, massive ureteral and bladder dilatation and cryptorchidism. Kidneys are often affected by secondary hydronephrosis or by polycystic dysplasia. The full manifestation of the syndrome occurs almost exclusively in boys. Available reports on the
epidemiology and outcome show a high perinatal mortality due to related prematurity and associated pulmonary complications. The management of a prune-belly patient has been controversial. However nowadays, the tendency is to assist primarily prune – belly neonates in respiratory failure, and to limit radical urologic interventions.
Case Report: We report hereby a full term prune-belly neonate who succumbed from this condition before being adequately investigated. Our purpose is to call clinicians’ attention to early
recognition, investigation and management of the syndrome. Even though infants with a full-blown syndrome have a poor prognosis for long term survival, all patients need careful evaluation and individualized management according to the spectrum of the syndrome. In this paper, the morphogenesis and the developmental biology of the abdominal wall will be also recalled, and literature reviewed
Brachial Plexus Lesions: Anatomical Knowledge as an Essential Diagnostic Tool in a Situation of Limited Imaging Facilities
Diagnosing brachial plexus lesion is a challenge in countries where
imaging facilities are not well developed. Here we report 3 cases of
different lesions of the brachial plexus sustained after a road traffic
crush. The first case presented with a lesion of the 3 primary trunks
of the right brachial plexus. The clinical examination showed paralysis
of all terminal nerves of the brachial plexus and the collateral
branches of both anterior and posterior brachial plexus. The second
patient showed paralysis of all muscles of the shoulder and muscles of
the anterior compartment of the arm. This clinical feature is in
accordance of the upper brachial trunk lesion. The third patient had
paralysis of muscles of the hand being innerved by median nerve or ulna
nerve. He showed also paralysis of muscles of the anterior compartment
of the forearm and anaesthesia of the medial region of hand and
forearm. This clinical feature was in conformity with a lesion of
inferior primary trunk. All diagnoses were made based on the clinical
findings. These cases demonstrate the significance of a through
anatomical knowledge in the clinical examination if one has to avoid
confusing the signs of terminal nerves lesion with the trunk's lesion.
These cases underscore the importance of applied anatomy in clinical
situations
Poland’s Syndrome: A Case Report
Poland’s Syndrome is a rare congenital condition. It is
classically characterized by absence of unilateral chest wall muscles
and sometimes ipsilateral symbrachydactyly (abnormally short and webbed
fingers). The condition typically presents with unilateral absence of
the sternal or breastbone portion of the pectoralis major muscle which
may or may not be associated with the absence of nearby musculoskeletal
structures. We report a 12-year-old boy patient with typical features
of Poland syndrome. To the best of our knowledge, this is the first
documented case of a patient with Poland syndrome reported from Rwanda
Clinical And Genetic Diagnosis Of Multiple Osteochondromas In Rwandan Patients
Multiple Osteochondromas (MO) or hereditary multiple exostoses (HME) is
an autosomal dominant skeletal disorder mainly characterized by
multiple osteochondromas predominantly located at the growth plates of
long bones. MO is a genetically heterogeneous disorder and results from
mutations in EXT1 and EXT2 genes located on chromosome 8q23-q24 and
11p11-p12. We hereby report a case of a 23-year-old girl who presented
characteristic clinical and radiological features of MO. The same
clinical signs were observed in her relatives. The p.Arg340Cys mutation
in the EXT1 gene was found in the proband confirming the clinical
diagnosis. A surgical management was carried out in all affected bones
which consisted of excision of the bigger and pain full
osteochondromas. The patient was informed of her problem and genetic
counseling was offered to the family’s members.La maladie des exostoses multiples ou ostéochondromes multiples
est maladie osseuse d’origine génétique autosomique
dominante principalement caractérisée par la présence de
plusieurs excroissances osseuses qui se présentent comme des
bosses prédominant au niveau de l’extrémite des os
longs. L’exostose multiple est une maladie
génétiquement hétérogene pouvant résulter des
altérations (mutations) de plusieurs gènes dont les plus
fréquents sont les gènes EXT1 et EXT2 localisés sur les
chromosomes 8q23-q24 et 11p11-p12, respectivement. Ici nous
présentons un cas d’une jeune fille âgée de 23 ans
qui présentait des signes cliniques et radiologiques
caractéristiques d’exostoses multiples. Le même
phénotype a été observé chez certains membres de sa
famille. Une mutation p.Arg340Cys a été identifiée chez
cette patiente confirmant le diagnostic. Une prise en charge
chirurgicale a été entreprise et consistant à enlever
les excroissances osseuses grosses et qui entrainaient la douleur chez
la patiente. En plus, toutes les informations concernant la maladies
ont été donnees à la patiente et un conseil
génétique a été donné aux autres membres de la
famille
HSP110, caspase-3 and -9 expression in physiological apoptosis and apoptosis induced by in vivo embryonic exposition to all-trans retinoic acid or irradiation during early mouse eye development
Apoptosis is an essential physiological process in embryonic development. In the developing eye of vertebrates, three periods of developmental apoptosis can be distinguished: early, intermediate and later. Within the apoptosis pathway, caspases play a crucial role. It has also been shown that HSP110 may have a potential role in apoptosis. The aim of this research was to study the expression of HSP110, caspase-3 and -9 in physiological, retinoic- or irradiation-induced apoptosis during early eye development. Seven pregnant C57Bl/6J mice received 80 mg kg−1 of all-trans retinoic acid mixed with sesame oil. Seven pregnant NMRI mice received 2 Gy irradiation at the same gestational day. Control mice of both strains (seven mice of each) were not submitted to any treatment. Embryos were harvested at 3, 6, 12 and 24 h after exposition, fixed, dehydrated and embedded. Coronal sections (5 µm) were made. Slide staining occurred alternatively using anti-caspase-3, anti-caspase-9 and anti-HSP110 immunohistochemistry. HSP110 and caspase-3 expression presented similar topographic and chronological patterns, whereas expression of HSP110 was more precocious in retinoic acid-treated embryos. After retinoic exposure, caspase-3- and HSP110-positive cells were increased in the region of the optic vesicle. By contrast, after irradiation, caspase-3- and HSP110-positive cells were noticeably increased in the optic vesicle, peri-optical mesoderm but less in lens placode. HSP110 was expressed before caspase-3. By contrast, caspase-9 was expressed by a very small number of cells in the optic vesicle either under physiological or under teratogenic conditions. Thus, it seems that activation of caspase-9 is dispensable in early eye developmental apoptosis.info:eu-repo/semantics/publishe
Successful surgical separation of conjoined twins: First experience in Rwanda
Conjoined twins are identical or monozygotic twins whose bodies are
joined in utero. Pygopagus or Iliopagus twins are a type of conjoined
twins in which two bodies joined back to back at the buttocks. Surgical
Separation of conjoined twins is extremely risk of death and life
threatening. Female pygopagus twins of three months were been operated
and separated at Kigali Teaching University Hospital. For both babies a
posterior sagittal anorectoplasty was performed with derivated
ileostomy without problem. No complications occurred during the
operation, oral feedings was done at third postoperative day. Ileostomy
closure was done three weeks after and babies were discharged from
neonatology unit at 35th postoperative day. Adequate preoperative
investigation with a well organized and trained team contributed a lot
to the success of conjoined twins separation