Clemastine improves electrophysiologic and histomorphometric changes through promoting myelin repair in a murine model of compression neuropathy.

Compression neuropathies are common and debilitating conditions that result in variable functional recovery after surgical decompression. Recent drug repurposing studies have verified that clemastine promotes functional recovery through enhancement of myelin repair in demyelinating disease. We investigated the utility of clemastine as a treatment for compression neuropathy using a validated murine model of compression neuropathy encircling the compression tube around the sciatic nerve. Mice received PBS or clemastine solution for 6 weeks of compression phase. Mice taken surgical decompression received PBS or clemastine solution for 2 weeks of decompression phase. Electrodiagnostic, histomorphometric, and Western immunoblotting analyses were performed to verify the effects of clemastine. During the compression phase, mice treated with clemastine had significantly decreased latency and increased amplitude compared to untreated mice that received PBS. Histomorphometric analyses revealed that mice treated with clemastine had significantly higher proportions of myelinated axons, thicker myelin, and a lower G-ratio. The expression levels of myelin proteins, including myelin protein zero and myelin associated glycoprotein, were higher in mice treated with clemastine. However, the electrophysiologic and histomorphometric improvements were observed regardless of clemastine treatment in mice taken surgical decompression. Mice treated with clemastine during compression of the sciatic nerve demonstrated that clemastine treatment attenuated electrophysiologic and histomorphometric changes caused by compression through promoting myelin repair.

Compression of lateral antebrachial cutaneous nerve in waitresses.

OBJECTIVE: In a retrospective survey of our electrophysiology laboratory, we encountered 3 cases of lateral antebrachial cutaneous nerve (LACN) compression in waitresses and propose direct compression of LACN by carrying heavy trays on the lateral bicipital tendon. LACN, a branch of musculocutaneous nerve, provides sensory innervations to lateral forearm. Causes of LACN involvement include venipuncture, elbow surgery, and trauma. METHODS: We encountered 6 cases of LACN neuropathy, 3 cases that were in slim waitresses carrying heavy trays. History and physical examination and forearm electrophysiologic studies (EPS) were performed in 3 waitresses at initial and follow-up visits. Antidromic stimulation of LACN was undertaken by Spindler and Felsenthals technique. Latency, amplitude, and conduction velocity were measured and compared with contralateral limb. RESULTS: All 3 patients were female waitresses aged 35-42 years, presented with few months of painful paresthesias of distal forearm, worse during working hours. Tinel sign at lateral cubital fossa was positive in all. EPS confirmed delayed latency, low amplitude, and slow conduction velocity of LACN on symptomatic side compared with normal. All 3 patients revealed electrophysiologic abnormalities consistent with LACN compression due to heavy trays in slim waitresses and considered occupational hazard. Treatment included nortriptyline or gabapentin and avoidance of heavy trays. Clinical and EPS findings improved over 8 months. CONCLUSIONS: We described 3 cases of LACN compression in waitresses from edges of heavy trays with typical symptoms and abnormal electrophysiological studies and improvement by avoiding compression and with analgesics. We propose inadequate fatty tissue in antecubital fossa contributed to compression of LACN.

A case report of Gordon's syndrome in a 20-year-old male with free medical family history.

Gordon's syndrome is a rare autosomal dominant disease that manifests in childhood. It is characterized by hypertension, hyperkalemic hyperchloremic metabolic acidosis, low renin and usually normal aldosterone levels, and it is sensitive to thiazide diuretics. A 20-year-old male with a history of diagnosed Gordon's syndrome was referred to a nephrology clinic for evaluation. The patient, who was under treatment with hydrochlorothiazide, had been diagnosed with Gordon's syndrome at the age of 11, when he presented hypertension and episodes of hyperkalemic hyperchloremic metabolic acidosis. However, none of his relatives had been diagnosed with this syndrome. Therefore, we assume that our patient might be a case of de novo gene mutation.

The first case of Bruck syndrome associated with gastroschisis.

Bruck syndrome is an extremely rare disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta with congenital contractures of large joints. Although the genotypic and phenotypic features of Bruck syndrome are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and joint contractures, which supported the diagnosis of Bruck syndrome. After surgical procedures for gastroschisis, the fractures were treated with splints, and cyclic pamidronate treatment was started. On postoperative day 30, the patient was discharged without any complications. She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment. Although prematurity and low birth weight are common in gastroschisis, musculoskeletal anomalies have not been reported until now, and thus the case is unique. Additionally, cyclic pamidronate administration is a good treatment choice for bone fragility in Bruck syndrome to reduce the number of fractures, and it may be beneficial for the subsequent clinical deterioration of the patients.

Partial tarsal arthrodesis and botulinum toxin A injection for correction of tarsal arthrogryposis in a cat.

An 11-week-old, domestic shorthair cat was presented for evaluation of a congenital right tarsal deformity. The cat was non-weightbearing lame on the right hindlimb. There was severe tarsal hyperextension and concurrent spasticity/contracture/shortening of the gastrocnemius muscle-tendon. The cat was otherwise healthy. Radiographically there was luxation of the proximal intertarsal joint and talocrural hyperextension. Treatment with 10 mu/kg botulinum toxin A (Botox; Allergan) intramuscular injections directly into the gastrocnemius muscle and passive physiotherapy marginally improved the range of motion in the talocrural joint. Definitive surgical treatment with partial tarsal arthodesis produced an excellent clinical outcome. This case report demonstrates the successful treatment of a severe congenital tarsal abnormality and also documents the first clinical use of botulinum toxin in a feline patient.

Arthrogryposis, renal dysfunction and cholestasis syndrome.

We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral abnormalities (hypoplastic corpus callosum), congenital heart disease and nerve deafness. We suggest that some of these cases might benefit from ursodeoxycholic acid therapy. We believe that this autosomal recessive disorder is possibly under-diagnosed in this region with a high consanguineous marriage rate.

[Association of Moebius syndrome and hypopituitarism due to a midline anomaly. A case report]. / Association d'un syndrome de Moebius et d'un hypopituitarisme par anomalie de la ligne médiane. A propos d'un cas.

A 14 year old patient had both Moebius anomalad with arthrogryposis and growth hormone deficiency due to a midline defect. This combination suggests an abnormality in the organization of the neural crest and homologous neural tube segment.