Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.

Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies in infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all patients harbor these PRRT2 mutations, indicating the involvement of genes other than PRRT2. In this study, we performed whole exome sequencing analysis for a large family affected with PRRT2-unrelated BPEI.

Mid-term clinical results of total hip arthroplasty using a Wagner standard cup for dysplastic hip.

Background: The outcome of cementless total hip arthroplasty depends on many factors. We must not forget fundamental things those are design of outer surface of the component, that leads bone ingrowth into the prosthesis, better initial stability, and better insertional techniques. The purpose of this study was to review our experience with metal-on-metal total hip arthroplasty with a Wagner standard cup for patients who had acetabular dysplasia.

Treatment results of endosaccular coil embolization of asymptomatic unruptured intracranial aneurysms in elderly patients.

Background And Purpose: We report the results of endosaccular coil embolization of asymptomatic unruptured intracranial aneurysms (UIAs) in elderly patients (≥65 years).

Materials: There were 375 elderly patients with 400 asymptomatic UIAs. Patients were divided into two groups: group A included patients aged 65-74 years and group B patients aged ≥75 years.

The fracture sites of atypical femoral fractures are associated with the weight-bearing lower limb alignment.

Atypical femoral fractures (AFFs) are stress-related fractures that are speculated to associate with long-term treatment with bisphosphonates for osteoporosis. A history of AFF is a high risk factor for the development of a subsequent AFF in the same location of the contralateral femur, suggesting that a patient's individual anatomical factor(s) are related to the fracture site of AFFs. In this study, we investigated the radiographs of fourteen AFFs (four bilateral fractures among ten patients) treated at six hospitals associated with our university between 2005 and 2010.

A case of thalamic hemorrhage with takotsubo cardiomyopathy.

Case: A 76-year-old woman was found unconscious by her family. She had suffered a fall and was soaked in kerosene. On arrival at our emergency department, she was unconscious, normotensive, with right hemiplegia and chemical burns.

Laminin-1 promotes enteric nervous system development in mouse embryo.

Background/aim: Neuronal development is regulated by extracellular environmental factors including nerve growth factor (NGF) and laminin. We have previously demonstrated that laminin-1 promotes neurite outgrowth of dorsal root ganglion cells by modulating NGF and integrin signaling. However, information about their effects on the enteric nervous system (ENS) is limited.

Oral mexiletine for lidocaine-responsive neonatal epilepsy.

We report a patient with lidocaine-responsive neonatal epilepsy treated successfully with oral mexiletine. The patient was a male neonate who had seizures since 2days of age. While his seizures were refractory to phenobarbital, lamotrigine, vitamin B6, and midazolam, they were controlled by continuous lidocaine infusion.

Endoloop ligation technique for prolapsed pedunculated submucous uterine myoma: utility and reliability.

Purpose: We use a non-surgical endoloop snare technique to remove prolapsed pedunculated submucous uterine myomas under the concept that ligating the pedicle causes tumor necrosis and natural elimination of the tumor. We evaluated our method on the basis of clinical outcomes.

Methods: For pertinent clinical data, we reviewed the hospital records of 11 patients treated by our new method between July 2009 and 2010 and followed up for 22-31 months.

Two cases of primary small cell carcinoma of the breast showing non-mass-like pattern on diagnostic imaging and histopathology.

Primary small cell carcinoma of the breast is a rare breast cancer. We report two cases of this entity showing a non-mass-like pattern on multimodality images and histopathology. Both women presented with a breast mass, and one had axillary lymphadenopathy.

Minimally invasive transabdominal collection of preimplantation embryos from the common marmoset monkey (Callithrix jacchus).

A novel, minimally invasive, transabdominal embryo collection method (transabdominal method) was developed as an alternative to a standard abdominal incision for embryo collection in the common marmoset. The abdominal incision method was used for 304 flushes using 36 female animals, whereas the transabdominal method was used for 488 flushes using 48 females; successful embryo collection rates were 48.0% and 48.

SCN1B is not related to benign partial epilepsy in infancy or convulsions with gastroenteritis.

We hypothesized that benign partial epilepsy in infancy (BPEI) and convulsions with gastroenteritis (CwG) may have a similar genetic background, because previous studies indicate that clinical features overlap between BPEI and CwG. As carbamazepine is effective for cessation of clustering seizures in children with BPEI and CwG, some genetic mutations regarding sodium channels may be related to the development of BPEI and/or CwG. We focused on SCN1B encoding the voltage-dependent sodium channel β subunit.

IgG4-related tumour-forming mastitis with histological appearances of granulomatous lobular mastitis: comparison with other types of tumour-forming mastitis.

Aims: Sometimes, mastitis needs to be differentiated from carcinoma because of its association with induration and with ultrasound findings (such as low-echo lesions) that resemble those in carcinoma. The aim was to define this type of mastitis and to examine 18 cases to clarify its clinicopathological features.

Methods And Results: All cases were categorized into three types: non-specific mastitis with neutrophilic infiltration (n = 7); non-specific mastitis with lymphoplasmacytic infiltration (n = 9); and granulomatous lobular mastitis (n = 2).

Autoimmune focal encephalitis shows marked hypermetabolism on positron emission tomography.

A 22-month-old toddler presented with involuntary movements, hemiparesis, and behavioral changes. Magnetic resonance imaging showed no abnormality, but positron emission tomography (PET) showed focal hypermetabolism. By immunohistochemical technique with the patient's sera in control brain sections, autoantibodies recognizing the same areas as found by PET scanning were identified and disappeared after intravenous immunoglobulin therapy.

Activation of fibrinolysis by reinfusion of unwashed salvaged blood after total knee arthroplasty.

In 19 patients with RA and 20 with OA who underwent autotransfusion with unwashed salvaged blood (USB) after total knee arthroplasty, we performed serial measurement of D-dimer, FgDP, t-PA, and PIC in the plasma and salvaged blood. The PIC level at the completion of salvaged blood transfusion was closely correlated with the volume of USB reinfused in the RA group (p<0.001).

Surgical considerations in fourth ventricular ependymoma with the transcerebellomedullary fissure approach in focus.

Introduction: Within the existing consensus for the best management of pediatric infratentorial ependymomas (PIE), surgery is the most important stage, where complete removal should be the perfect aim, before complementing it with chemo- or radiotherapy. That, however, remains a challenge even for the most skillful surgeons because of the vicinity of important brainstem and cranial nerve structures involved and is particularly difficult in lateral extensions.

Materials And Methods: The paper analyzes the current trends of PIE treatment with emphasis on resection difficulties created by lateral extensions.