No abstract available.
Colitis, Ulcerative* ; Ulcer*

Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.
Argininosuccinic Acid ; Biopsy ; Citrulline ; Citrullinemia* ; Coma ; Diagnosis ; Humans ; Hyperammonemia ; Infant, Newborn ; Lethargy ; Ligases ; Liver ; Male ; Plasma ; Seizures ; Urea ; Vomiting

Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.
Argininosuccinic Acid ; Biopsy ; Citrulline ; Citrullinemia* ; Coma ; Diagnosis ; Humans ; Hyperammonemia ; Infant, Newborn ; Lethargy ; Ligases ; Liver ; Male ; Plasma ; Seizures ; Urea ; Vomiting

Familial benign pemphigus is a skin disease with recurrent blistering lesions, mainly in the neck and intertriginous areas. The course of the disease is characterized by spontaneous exacerbations and remissions. The many remedies for this disorder include topical and systemic glucocorticosteroids, and antibacterial and antimycotic agents. However, these therapies usually do not prolong the remission periods. Surgical treatments, such as skin graft, have been more successful. Laser treatment has reported to be effective in recurrent familial benign chronic phemphigus. Here we report a case of familial benign chronic phemphigus that was treated with carbin dioxide laser.
Blister ; Carbon Dioxide* ; Carbon* ; Lasers, Gas* ; Neck ; Pemphigus ; Pemphigus, Benign Familial* ; Skin ; Skin Diseases ; Transplants

Familial benign pemphigus is a skin disease with recurrent blistering lesions, mainly in the neck and intertriginous areas. The course of the disease is characterized by spontaneous exacerbations and remissions. The many remedies for this disorder include topical and systemic glucocorticosteroids, and antibacterial and antimycotic agents. However, these therapies usually do not prolong the remission periods. Surgical treatments, such as skin graft, have been more successful. Laser treatment has reported to be effective in recurrent familial benign chronic phemphigus. Here we report a case of familial benign chronic phemphigus that was treated with carbin dioxide laser.
Blister ; Carbon Dioxide* ; Carbon* ; Lasers, Gas* ; Neck ; Pemphigus ; Pemphigus, Benign Familial* ; Skin ; Skin Diseases ; Transplants

The increased incidence of thyroid cancer in young females may raise concerns about visible hypertrophic scarring on the center of the neck after thyroid gland surgery. Therefore, endoscopic surgical procedures have attracted significant interest from patients with thyroid cancer, leading to the development of various endoscopic and robotic approaches. Although the cosmetic outcomes of current endoscopic and robotic thyroid surgeries have been excellent, all the procedures still require a large incision and extensive flap elevation. Transoral endoscopic thyroid surgery is a newly developed surgical method performed by inserting an endoscope through a mucosal opening created in the mouth, obviating the need for a skin incision. Additionally, the dissection area is relatively small and no dressings are required. Showering or shaving may resume the day after surgery and the port created within the oral mucous membrane generally heals within one week. Importantly, this approach is markedly less invasive than other endoscopic approaches. Although transoral endoscopic thyroid surgery has not yet been universally accepted, it may emerge as the preferred method for thyroid surgery in the near future.

Natural orifice transluminal endoscopic surgery (NOTES) is the latest surgical technique for inserting an endoscope through the mouth, anus, vagina etc., and for performing surgery with mucosal incision only, i.e., without skin incision. Recently, a number of researchers have applied NOTES to thyroid surgery in several trials, with the aim of removing the thyroid gland through oral cavity. The transoral endoscopic thyroid surgery became widely known after Anuwong et al. reported successful results for their first 60 patients and it has become increasingly recognized as a feasible novel surgical procedure. The purpose of this article is to review and summarize the existing literature, and describe in detail the preoperative considerations, rationale for patient selection, surgical method and postoperative management for transoral thyroid surgery.
Anal Canal ; Endoscopes ; Humans ; Methods ; Mouth ; Natural Orifice Endoscopic Surgery ; Patient Selection ; Skin ; Thyroid Gland* ; Thyroidectomy ; Vagina

We recently experienced a case of transoral endoscopic thyroidectomy combined with a modified radical neck dissection (MRND) using a facelift approach in a patient with keloid-prone skin. A 35-year-old female was diagnosed with a papillary thyroid carcinoma, which was 1.2 cm in diameter and showed level II-III lateral cervical metastases. The patient required total thyroidectomy and MRND; however, she was concerned about the neck incision because she had keloid-prone skin. We first performed a transoral, endoscopic total thyroidectomy combined with bilateral central node dissection via a tri-vestibular approach, and then followed it by MRND (II-V) using a facelift approach with the Da Vinci robotic system. We noted no significant complications, such as vocal cord palsy, hypoparathyroidism, or permanent loss of the lower lip or auricle. This new method of combining transoral and facelift approaches will be useful for patients with small thyroid cancers and lateral neck metastases.
Adult ; Female ; Humans ; Hypoparathyroidism ; Lip ; Methods ; Neck ; Neck Dissection ; Neoplasm Metastasis ; Rhytidoplasty ; Skin ; Thyroid Neoplasms ; Thyroidectomy ; Vocal Cord Paralysis

We recently experienced a case of transoral endoscopic thyroidectomy combined with a modified radical neck dissection (MRND) using a facelift approach in a patient with keloid-prone skin. A 35-year-old female was diagnosed with a papillary thyroid carcinoma, which was 1.2 cm in diameter and showed level II-III lateral cervical metastases. The patient required total thyroidectomy and MRND; however, she was concerned about the neck incision because she had keloid-prone skin. We first performed a transoral, endoscopic total thyroidectomy combined with bilateral central node dissection via a tri-vestibular approach, and then followed it by MRND (II-V) using a facelift approach with the Da Vinci robotic system. We noted no significant complications, such as vocal cord palsy, hypoparathyroidism, or permanent loss of the lower lip or auricle. This new method of combining transoral and facelift approaches will be useful for patients with small thyroid cancers and lateral neck metastases.

Achalasia is a rare motor disorder of the esophageal smooth muscle in which the lower esophageal sphincter dose not relax properly with swallowing, and the normal peristalsis of the esophageal body is replaced by abnormal contractions. Achalasia has been described as party of several distinct multisystem syndromes suggesting a generalized neuromuscular disorder as the mode of origin. An 11-year-old female was admitted because of paresthesia on the trunk and both legs for 5 days. She had suffered from chest discomfort, dysphagia, postprandial vomiting, and weight loss for 6 months. She was diagnosed as having achalasia by means of the esophagography and esophageal manometry. Her chest discomfort, dysphagia and vomiting much improved after the endoscopic balloon dilatation. The authors present an 11-year-old female with achalasia complained of paresthesia and sucessfully managed by the balloon dilatation.
Child ; Deglutition ; Deglutition Disorders ; Dilatation ; Esophageal Achalasia* ; Esophageal Sphincter, Lower ; Female ; Humans ; Leg ; Manometry ; Muscle, Smooth ; Neurologic Manifestations* ; Paresthesia ; Peristalsis ; Thorax ; Vomiting ; Weight Loss