It is important for the diagnosis of Lambert-Eaton myasthenic syndrome (LEMS) to confirm the incremental response at high-rate stimulation or after brief exercise in the repetitive nerve stimulation (RNS) test. Therefore, it may be difficult to diagnose LEMS if the RNS test is normal initially. We report a patient with LEMS whose diagnosis was delayed due to normal RNS findings. We believe that anti-P/Q-type voltage-gated calcium channel antibody testing is crucial in the diagnosis of LEMS.

Cicatrix ; Humans ; Maxilla ; Maxillary Sinus ; Osteotomy ; Skeleton ; Visual Fields

Objective: N-terminal pro-B-type natriuretic peptide (NT-proBNP) is suggested as a prognostic biomarker for communityacquired pneumonia (CAP). However, its predictive value for an individual adult and elderly CAP patients has not been fully investigated. Methods: Patients with CAP aged 18 years and older, who visited the emergency department (ED) from March 1, 2016 to March 31, 2019, were included in this study. Patients were divided into the adult group and the elderly group (age ≥70 years). Data was collected from the ED-based registry, and medical charts were retrospectively reviewed. The registry data included sociodemographic and past medical characteristics, as well as laboratory findings including NT-proBNP and C-reactive protein (CRP), Pneumonia Severity Index (PSI), and CURB65 (confusion, urea, respiratory rate, blood pressure, and aged 65 or more). The independent potential of NT-proBNP to predict mortality was assessed in both groups using multivariable logistic regression, and its predictive ability was evaluated in terms of performance (using areas under the curve [AUCs]) and goodness-of-fit (using the Bayesian information criterion [BIC]). Results: Totally, 325 CAP patients were evaluated, of which 208 (64%) belonged to the elderly group. NT-proBNP was identified as an independent predictor of CAP mortality in elderly patients, but not in adult patients. Moreover, AUC of the NT-proBNP for mortality was comparable to AUC of the PSI, but was higher than that of the CURB65, in elderly CAP patients. Similarly, the NT-proBNP had a better overall fit (lower BIC value) compared to the CURB65, for mortality. Additionally, both AUC and overall fit of the NT-proBNP for mortality were significantly superior to values obtained for CRP. Conclusion For elderly CAP patients in the ED, the NT-proBNP is an independent and useful predictor of mortality.

Kommerell diverticulum is a rare congenital anomaly of the aortic arch characterized by dilation at the proximal descending aorta, which gives rise to an aberrant subclavian artery. Kommerell diverticulum is usually asymptomatic, but can also be associated with symptoms due to compression of the esophagus or trachea, and can rarely be fatal due to dissection or rupture of the diverticulum. Here, we report a rare case of dysphagia caused by compression of the esophagus by Kommerell diverticulum originating from the right-sided aortic arch.

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed 'anticipation' so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.
Child ; Male ; Female ; Humans ; Mice ; Animals

No abstract available.

Myotonic dystrophy is a multisystemic disorder inherited as an autosomal dominant trait. The characteristic clinical features include the presence of myotonia, atrophy of the muscles of the face and the sternocleidomastoids and numerous nonmusclar manifestations such as cataracts, frontal baldness, gonadal dysfunctions and cardiac abnormalities. We experienced one case of myotonic dystrophy with prolonged atrial flutter in 30-year-old male who was admitted because of palpitation. We present this case with reviewing literatures.
Adult ; Alopecia ; Atrial Flutter* ; Atrophy ; Cataract ; Gonads ; Humans ; Male ; Muscles ; Myotonia ; Myotonic Dystrophy*

Purpose: We analyzed the efficacy and safety of extracorporeal shock wave lithotripsy (ESWL) for treating patient with urinary tract calculi with using a Dornier Compact S(R)lithotriptor. Materials and Methods: We retrospectively reviewed the records of all the patient who had urinary calculi and who were treated by ESWL between August 1, 1996 and August 1, 2001. The location and sizes of the stones, the number of sessions, the success rate, the causes of failure and the complications of ESWL were analyzed. The definition of successful treatment was no calcification on the X-ray (plain film, KUB) or residual fragments < or= 3mm in size. Results: Of the 470 cases, there were 157 (33.4%) and 313 (66.6%) cases of renal stones and ureteral stones, respectively. The total success rate was 94.3% (445/470), with success rates of 97.4%, 90.8%, 82.1% and 88.9% for stone sized <10mm, 11-20mm, 21-30mm and >31mm, respectively. Conclusions: The results showed that ESWL is a highly effective and minimally invasive treatment modality as the 1st therapeutic option for urinary stones. The Dornier Compact S(R)is an efficient and safe lithotripter that's capable of treating stones in the kidney and throughout the ureter.
Calculi ; Humans ; Kidney ; Lithotripsy* ; Retrospective Studies ; Shock* ; Ureter ; Urinary Calculi ; Urinary Tract

Traumatic pyriform sinus perforation is a very rare complication of endotracheal intubation. Forced insertion of endotracheal tube can tear pyriform sinus mucosa. Pyriform sinus perforation can result in deep neck infection which may be potentially lethal. We report a case of pyriform sinus perforation secondary to traumatic intubation, which was successfully treated with primary closure.
Intubation ; Intubation, Intratracheal ; Mucous Membrane ; Neck ; Pyriform Sinus

Methods: A total of 69 patients with transforaminal lumbar interbody fusion (TLIF) for degenerative spinal disease were evaluated with a minimum 2-year follow-up. All patients underwent TLIF with hyper-lordotic angle cages to achieve higher LL. Radiological spino-pelvic parameters including sagittal vertical axis (SVA) and clinical outcomes using the Oswestry Disability Index (ODI) and Numeric Rating Scale (NRS) were evaluated. Results: The average LL was 35.8°±9.9° before surgery, 42.3°±9.3° 1 year after surgery, and 40.3°±10.2° 2 years after surgery (p <0.01). The average SVA was 43.1±6.2 mm before surgery, 21.2±4.9 mm 1 year after surgery, and 34.0±4.7 mm 2 years after surgery (p <0.01). The average LL and SVA improved in two- or three-segment fusion, but not in one-segment fusion. The correlation between ΔLL and ΔSVA was significant in all segment fusions. The correlation between ΔLL and ΔSVA was more significant at the L4–5 and L5–S1 segments than at L3–4. ODI was significantly correlated with SVA (p <0.05). NRS showed no correlation with the radiological parameters. Conclusions Two- or three-segment lumbar fusion using hyper-lordotic angle cages improved LL and SVA. A significant correlation between the correction of LL and SVA was found. Higher correction of LL using hyper-lordotic angle cages is thus recommended in short-segment lumbar fusion, since postoperative improvements of SVA significantly affect clinical outcomes.