Laser microdissection combined with real-time RT-PCR is a novel technique to reliably detect and quantify site-specific expression of low-abundance mRNAs (e.g. growth factors, neurotransmitter receptors) related to the human enteric nervous system. This technical approach expands the spectrum of available tools to characterize enteric neuropathologies underlying human gastrointestinal motility disorders at the molecular biological level.
Twenty-eight patients with 31 closed fractures (27 acute fractures and four with malalignment after conservative treatment) of the metacarpal bones 2-5 were treated with only one elastic stable intramedullary nail and followed prospectively. Treatment protocol was without immobilization or physiotherapy. These patients were reviewed at a mean follow-up time of 15 months for ultrasound results as well as functional outcome concerning complications, pain, range of motion, and grip strength measured with a Vernier-Dynamometer. Satisfaction of the patients was investigated by Clients Satisfaction Questionnaire. Radiographs before nail removal, ultrasound, and clinical examination always showed complete union of the fracture without deviation of axis. All patients gained full range of motion without any limits in daily activity and sports. There was no loss of grip strength compared with the other hand. Patients' satisfaction was very high, especially because of almost no postoperative pain and lack of immobilization. This method can be offered as an effective and safe alternative in the treatment of closed displaced fractures of the 2-5 metacarpus without significant complications.
Chronic colorectal motility disorders are commonly encountered in the pediatric population. While most cases can be managed successfully by conservative therapy, a subgroup of patients suffers from severe constipation and requires further diagnostic procedures to identify the underlying pathologies, such as aganglionosis, hypoganglionosis or intestinal neuronal dysplasia (IND). The present study provides reference data about the quantitative distribution of nerve cells and ganglia within the submucosal plexus of the human anorectum from healthy subjects. Anorectal specimens (n = 15) obtained postmortem were divided into 6 segments beginning from the dentate line (S1 = 0-2 cm, S 2 = 2-4 cm, S3 = 4-6 cm, S4 = 6-8 cm, S5 = 8-10 cm, S6 = 10-12 cm). From each segment sections (6 microm thickness) were immunostained with a pan-neuronal marker (Protein Gene Product 9.5) to visualize the enteric nervous system. A morphometric analysis was carried out for each segment recording the number of ganglia and nerve cells of the submucous plexus. Neither ganglia nor nerve cells showed a uniform distribution pattern, but decreased continuously towards the anus. However, even the lowest segments (S1, S2) contained nerve cells and were not aganglionic. In the remaining segments ganglia with 7 or more nerve cells could be detected. The findings demonstrate segment-specific quantitative differences of the anorectal submucous plexus which should be taken into consideration for the histopathologic evaluation of rectal biopsies. Moreover, the data support the concept of a physiologic hypoganglionosis of the anal canal.
Endoscopy and laparoscopy are used for the assessment of disorders of sex development (DSD) and therapeutic interventions. Endoscopy (urethra-cystoscopy, vaginoscopy) is especially useful when vaginal or urethral surgery is planned. It is also valuable for the assessment of complications. Laparoscopy is used to identify sex ducts and gonads and to perform minimally invasive abdominal and pelvic surgery. This article reviews clinical indications, limitations, findings, and their reporting. It further discusses the impact of these findings on care in typical clinical situations.
Anti-Hu syndrome is a rare autoantibody associated paraneoplastic disease of the central and peripheral nervous system resulting in a variety of neurological symptoms. In pediatric patients it is described in the context of (ganglio) neuroblastoma associated Opsoclonus-Myoclonus Syndrome (OMS) and other paraneoplastic syndromes. The timely diagnosis of paraneoplastic autoimmunity in childhood is hampered by its rarity as well as by the diversity of clinical symptoms that may occur. We report a 4-year-old boy with gastrointestinal disorder and neurological symptoms due to neuroblastomaassociated anti-Hu syndrome. The patient stabilized under a multimodal oncologic, immunosuppressive and antiepileptic treatment regimen. Treatment of neuroblastoma was individually modified and especially the specific anti- GD2 post-consolidation therapy was substituted by oral cyclophosphamide maintenance therapy in order not to aggravate autoimmune encephalitis. At the age of 8 years, the boy has been in ongoing complete oncologic remission for two years after end of relapse treatment. However, he suffers from neurologic symptoms like focal epilepsy and late sequelae of the oncologic disease. This case shows that treatment of paraneoplastic anti-Hu syndrome is challenging, encephalitis may persist long after oncologic remission and may lead to developmental delay and a variety of physical sequelae.
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