ABSTRACT
AIMS: KCNJ11-related diabetes is the most common form of permanent neonatal diabetes and has been associated with a spectrum of neurodevelopmental problems. We compared neurodevelopmental outcomes in patients with KCNJ11 mutations and their sibling controls. METHODS: Through our Monogenic Diabetes Registry (http://monogenicdiabetes.uchicago.edu/), we evaluated 23 patients with KCNJ11 mutations with (n = 9) and without (n = 14) global developmental delay successfully treated with sulfonylurea and 20 healthy sibling controls, using a battery of targeted neuropsychological and behavioural assessments with scaled scores that are comparable across a wide range of ages. RESULTS: Patients with KCNJ11-related diabetes without global developmental delay had significant differences compared with sibling controls on a range of assessments including IQ, measures of academic achievement and executive function. KCNJ11 patients with global delay exhibited significant differences in behavioural symptoms with a tendency to avoid social contact and displayed a reduced ability to adapt to new circumstances. Parents reported more immature behaviour, gross mood swings, bizarre thoughts, other unusual and severe behaviours, and there were also significant deficits in all subdomains of daily living skills. CONCLUSIONS: This series represents the largest and most comprehensive study of neuropsychological and behavioural dysfunction of individuals with KCNJ11 diabetes and is the first to compare outcome with sibling controls. Our data demonstrate the variety of neurodevelopmental problems seen in those with KCNJ11 mutations, even in those without recognized global developmental delays. These data can be used to counsel families and guide structured neurodevelopmental assessments and treatments based on the initial genetic diagnosis in patients with neonatal diabetes.
Subject(s)
Developmental Disabilities/genetics , Diabetes Mellitus/genetics , Diabetes Mellitus/psychology , Potassium Channels, Inwardly Rectifying/genetics , Adolescent , Amino Acid Substitution , Case-Control Studies , Child , Child, Preschool , Developmental Disabilities/diagnosis , Diabetes Mellitus/classification , Female , Humans , Infant , Infant, Newborn , Infant, Newborn, Diseases/genetics , Infant, Newborn, Diseases/psychology , Male , Mutation, Missense , Neurologic Manifestations , Neuropsychological Tests , SiblingsABSTRACT
Interstitial pregnancy is an uncommon condition that is challenging, not only in making an accurate diagnosis, but also in the choice of treatment. Systemic methotrexate (MTX) treatment has been favored to prevent scarring of the uterus. Nevertheless, surgery is generally indicated when this treatment fails. Transvaginal aspiration of the gestational tissue has been proposed as an alternative to surgery. The authors present a case of interstitial pregnancy in which the patient failed to respond to multidose MTX treatment and was successfully treated with transvaginal sonography-guided transvaginal aspiration of the gestational tissue, thereby bypassing the risk associated with undergoing major surgery. Transvaginal aspiration of conceptive tissue may be a novel treatment for patients with unruptured interstitial pregnancy.
Subject(s)
Pregnancy, Interstitial/surgery , Suction/methods , Abortifacient Agents, Nonsteroidal/therapeutic use , Adult , Cicatrix/prevention & control , Female , Humans , Methotrexate/therapeutic use , Pregnancy , Pregnancy, Interstitial/diagnostic imaging , Pregnancy, Interstitial/drug therapy , Surgery, Computer-Assisted , Treatment Failure , UltrasonographyABSTRACT
Previous studies have shown that ovarian stimulation with clomiphene citrate (CC), human menopausal gonadotrophin (HMG), and multiple-dose gonadotrophin-releasing hormone (GnRH) antagonist is associated with a high rate of premature LH surge. This study assessed whether administration of the GnRH antagonist cetrorelix at an incremental dose or at a high dose (0.5mg) from the start could prevent premature LH surge. Couples with male factor or unexplained infertility who were going to undergo intrauterine insemination were randomized into two stimulation protocols. All women were stimulated with CC and HMG. In protocol A, cetrorelix was given at 0.25 mg per day when the leading follicles reached 14 mm, and increased to 0.5 mg when the leading follicles were 16 mm. With protocol B, cetrorelix was given at 0.5 mg per day when the leading follicles reached 14 mm. The primary outcome measure was the incidence of premature LH surge. Premature LH surge occurred in 21.6% of patients undergoing protocol A, and in 18.9% of patients undergoing protocol B. Cetrorelix at incremental dose or at 0.5 mg per day does not prevent premature LH surges associated with the CC/HMG/multiple-dose cetrorelix stimulation protocol.
Subject(s)
Gonadotropin-Releasing Hormone/analogs & derivatives , Gonadotropin-Releasing Hormone/antagonists & inhibitors , Luteinizing Hormone/blood , Ovulation Induction/methods , Adult , Clomiphene/administration & dosage , Female , Gonadotropin-Releasing Hormone/administration & dosage , Humans , Male , Menotropins/administration & dosageSubject(s)
Carcinoma, Squamous Cell/microbiology , Papillomaviridae/classification , Papillomavirus Infections/complications , Uterine Cervical Neoplasms/microbiology , Carcinoma, Squamous Cell/pathology , Disease Progression , Female , Humans , Neoplasm Invasiveness , Papillomaviridae/pathogenicity , Uterine Cervical Neoplasms/pathologySubject(s)
Fertilization in Vitro , Hydatidiform Mole/diagnosis , Pregnancy Complications, Neoplastic/diagnosis , Prenatal Diagnosis , Uterine Neoplasms/diagnosis , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Delivery, Obstetric , Diagnosis, Differential , Female , Humans , Hydatidiform Mole/drug therapy , Hydatidiform Mole/pathology , Infant, Newborn , Male , Pregnancy , Pregnancy Complications, Neoplastic/drug therapy , Pregnancy Complications, Neoplastic/pathology , Uterine Neoplasms/drug therapy , Uterine Neoplasms/pathologyABSTRACT
OBJECTIVE: To evaluate our experience with the diagnosis and treatment of Cesarean scar pregnancy. METHODS: During a 6-year period, 12 cases of Cesarean scar pregnancy were diagnosed using transvaginal color Doppler sonography and treated conservatively to preserve fertility. Incidence, gestational age, sonographic findings, beta-human chorionic gonadotropin ( beta-hCG) levels, flow profiles of transvaginal color Doppler ultrasound, and methods of treatment were recorded. RESULTS: The incidence of Cesarean scar pregnancy was 1:2216 and its rate was 6.1% in women with an ectopic pregnancy and at least one previous Cesarean section. Gestational age at diagnosis ranged from 5 + 0 to 12 + 4 weeks. The time interval from the last Cesarean section to the diagnosis of Cesarean scar pregnancy ranged from 6 months to 12 years. High-velocity and low-impedance subtrophoblastic flow (resistance index, 0.38) persisted until beta-hCG declined to normal. Patients were treated as follows: transvaginal ultrasound-guided injection of methotrexate into the embryo or gestational sac (n = 3), transabdominal ultrasound-guided injection of methotrexate (n = 2), transabdominal ultrasound-guided injection of methotrexate followed by systemic methotrexate administration (n = 2), systemic methotrexate administration alone (n = 2), dilatation and curettage (n = 2), or local resection of the gestation mass (n = 1). Eleven of the 12 patients preserved their reproductive capacity; the remaining patient, treated by dilatation and curettage, underwent a hysterectomy because of profuse vaginal bleeding. The Cesarean scar mass regressed from 2 months to as long as 1 year after treatment. Uterine rupture occurred in one patient during the following pregnancy at 38 + 3 weeks' gestational age. CONCLUSION: Ultrasound-guided methotrexate injection emerges as the treatment of choice to terminate Cesarean scar pregnancy. Surgical or invasive techniques, including dilatation and curettage are not recommended for Cesarean scar pregnancy due to high morbidity and poor prognosis.
Subject(s)
Cesarean Section/adverse effects , Cicatrix/complications , Pregnancy, Ectopic , Abortifacient Agents, Nonsteroidal , Abortion, Induced/methods , Adult , Female , Humans , Methotrexate , Pregnancy , Pregnancy, Ectopic/diagnostic imaging , Pregnancy, Ectopic/etiology , Pregnancy, Ectopic/therapy , Ultrasonography, Doppler, Color/methods , Ultrasonography, Interventional/methods , Ultrasonography, Prenatal/methodsABSTRACT
We describe a case of camptomelic dysplasia identified prenatally with the assistance of three-dimensional ultrasonography. The typical skeletal dysplasia of camptomelic dysplasia - including anterior bowing of the tibia, with skin dimpling over a convex surface at the point of maximal deformity, and talipes equinovarus - was successfully identified using the techniques of surface-rendering, multiplanar displays and rotated volume data. Three-dimensional ultrasonography allows the diagnosis of camptomelic dysplasia, which has a poor prognosis as it is accompanied by respiratory insufficiency and spinal deformities, to be made without delay and provides information supplementary to that provided by two-dimensional ultrasound for early diagnosis of skeletal dysplasia.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Bone and Bones/abnormalities , Ultrasonography, Prenatal , Abnormalities, Multiple/pathology , Abortion, Induced , Adult , Diagnosis, Differential , Female , Humans , Pregnancy , Pregnancy Trimester, FirstABSTRACT
High-order multifetal pregnancy is an inevitable consequence of assisted reproduction; and is associated with an increase in perinatal morbidity and mortality. Fetal reduction appears to be a safe and efficacious method for improving obstetric outcome. We made a retrospective study of study population 54 high multiple pregnancy following assisted reproduction that were reduced to twins at Shin Kong Memorial Hospital, Taipei,Taiwan from September 1992 to March 2000. Our study compares the outcome of multifetal pregnancy reduced to twins with the outcome of primary twin pregnancy. Maternal age, birth weight, gestational age at delivery and the incidence of preterm contractions were the only statistically significant differences between the two groups.
Subject(s)
Pregnancy Outcome , Pregnancy Reduction, Multifetal , Pregnancy, Multiple , Twins , Adult , Female , Humans , Infant Mortality , Infant, Newborn , Pregnancy , Reproductive Techniques, Assisted , Retrospective StudiesABSTRACT
BACKGROUND: Small cell carcinoma of the endometrium is a rare disease entity characterized by bulkiness and predisposition to necrosis. Clinical presentations include postmenopausal bleeding, lower abdominal mass, chronic abdominal pain and menorrhagia. We present a case of small cell carcinoma of the endometrium with concomitant pelvic inflammatory disease. The literature is also reviewed. CASE: A 64 year old female presented was admitted with the principal complaints of fever, lower abdominal pain and malodorous vaginal discharge. Bimanual examination revealed cervical motion tenderness with a WBC of 9400 cells/microL and increased levels of neutrophils, band cells and C-reactive protein. Sonography revealed an adnexal echocomplex compatible with tubo-ovarian abscess. Culture of the vaginal discharge revealed the presence of E. coli. Symptoms persisted despite three days of antibiotics administration so a laparotomy was performed with a friable hemorrhagic uterus revealed and an area of necrosis evident in the left adnexa. Malignancy was confirmed from frozen section. Total abdominal hysterectomy, with bilateral salpingooophorectomy and optimal debulking, was performed. The final pathology report confirmed small cell carcinoma of the endometrium. CONCLUSION: Malignancy and pelvic inflammatory disease have overlapping clinical characteristics. Once pelvic inflammatory disease is suspected in a postmenopausal patient, malignancy should also be suspected, and a thorough examination and a tumor-marker analysis performed.
Subject(s)
Carcinoma, Small Cell/complications , Carcinoma, Small Cell/diagnosis , Endometrial Neoplasms/complications , Endometrial Neoplasms/diagnosis , Pelvic Inflammatory Disease/complications , Carcinoma, Small Cell/surgery , Endometrial Neoplasms/surgery , Female , Gynecologic Surgical Procedures , Humans , Middle Aged , Pelvic Inflammatory Disease/diagnosis , Pelvic Inflammatory Disease/surgery , PostmenopauseABSTRACT
We present two cases of fetal meconium peritonitis in a single and twin pregnancy, respectively. The first case diagnosis was made at 30 weeks and was confirmed after delivery of the twins by cesarean section at 37 weeks. The second case diagnosis was made at 31 week and was confirmed at 37 weeks. Meconium peritonitis is a rare prenatal complication that results from intrauterine perforation of small bowel with spillage of sterile meconium into peritoneal cavity. We now report two cases of meconium peritonitis diagnosed at 30 and 31 weeks gestation.
Subject(s)
Fetal Diseases/diagnosis , Intestinal Obstruction/diagnosis , Intestinal Perforation/diagnosis , Jejunal Diseases/diagnosis , Meconium , Peritonitis/diagnosis , Adult , Diagnosis, Differential , Female , Fertilization in Vitro , Fetal Diseases/diagnostic imaging , Fetal Diseases/etiology , Fetal Diseases/surgery , Humans , Infant, Newborn , Intestinal Obstruction/complications , Intestinal Obstruction/diagnostic imaging , Intestinal Obstruction/surgery , Intestinal Perforation/diagnostic imaging , Intestinal Perforation/etiology , Intestinal Perforation/surgery , Jejunal Diseases/complications , Jejunal Diseases/diagnostic imaging , Jejunal Diseases/surgery , Male , Peritonitis/diagnostic imaging , Peritonitis/etiology , Peritonitis/surgery , Pregnancy , Pregnancy Trimester, Third , Pregnancy, Multiple , Twins , Ultrasonography, PrenatalSubject(s)
Fetal Growth Retardation/etiology , Leiomyoma/diagnosis , Pregnancy Complications, Neoplastic/diagnosis , Uterine Neoplasms/diagnosis , Adult , Cesarean Section , Diagnosis, Differential , Female , Fetal Growth Retardation/pathology , Humans , Infant, Newborn , Leiomyoma/complications , Leiomyoma/diagnostic imaging , Leiomyoma/surgery , Male , Pregnancy , Pregnancy Complications, Neoplastic/diagnostic imaging , Pregnancy Complications, Neoplastic/surgery , Ultrasonography , Uterine Neoplasms/complications , Uterine Neoplasms/diagnostic imaging , Uterine Neoplasms/surgeryABSTRACT
BACKGROUND: Microsurgical epididymal sperm aspiration (MESA) and percutaneous epididymal sperm aspiration (PESA) are two methods of obtaining spermatozoa from patients with irreparable obstructive azoospermia. Intentionally using frozen-thawed spermatozoa obtained from MESA had been reported to be successful. With minimal invasiveness, intentionally cryopreserved PESA specimens and intracytoplasmic sperm injection (ICSI) were carried out in two cases. CASES: Two cases of irreparable obstructive azoospermia received PESA, and the spermatozoa were cryopreserved intentionally. Successful ICSI was performed later, utilizing frozen-thawed spermatozoa. CONCLUSION: PESA and ICSI are promising methods for these patients. The major advantages are minimal invasiveness and flexibility for further treatment.
Subject(s)
Cryopreservation , Sperm Injections, Intracytoplasmic/methods , Spermatozoa , Adult , Female , Humans , Inhalation , Male , Microsurgery , Oligospermia/etiology , Ovulation Induction/methods , Sperm Count , Sperm Motility , Spermatozoa/physiologyABSTRACT
We report here a case of vulvar adhesion that was difficult to cure by estrogen only. We used amniotic membrane to be a barrier and after the operation, the symptoms of vulvar adhesion were resolved.
Subject(s)
Biological Dressings , Vulvar Diseases/surgery , Aged , Female , Humans , Postmenopause , Tissue AdhesionsABSTRACT
BACKGROUND: Meconium peritonitis occurring in pregnancies following artificial reproductive techniques (ART) is rare. We report the first case of meconium peritonitis following intracytoplasmic sperm injection (ICSI). CASE: A 37-year-old woman attended our in vitro fertilization (IVF) program because her husband suffered from hypospermatogenetic azoospermia due to cancer surgery and radiotherapy. The patient achieved a twin pregnancy through ICSI from testicular sperm extraction at our IVF center. Meconium peritonitis, fetal ascites, polyhydramnios, bowel dilatation, hydrocele and intraabdominal calcification were noted in one of the twins on ultrasound at 30 weeks' gestation. Cesarean section due to breech presentation in labor was performed at 36 weeks' gestation. A normal female and male infant with a distended abdomen were delivered. Emergency laparotomy was performed on the male twin because of dyspnea. A 0.2-cm perforation was found in the terminal ileum. Ileotomy was performed and closed after 27 days. CONCLUSION: Prenatal diagnosis of meconium peritonitis is possible through careful ultrasonographic examination, and early surgical intervention and intensive postoperative support are required to improve the prognosis.
Subject(s)
Diseases in Twins/etiology , Ileum/injuries , Intestinal Perforation/diagnostic imaging , Intestinal Perforation/etiology , Meconium , Peritonitis/diagnostic imaging , Peritonitis/etiology , Sperm Injections, Intracytoplasmic/adverse effects , Ultrasonography, Prenatal/methods , Adult , Breech Presentation , Cesarean Section , Female , Humans , Infant, Newborn , Intestinal Perforation/surgery , Male , Oligospermia/etiology , Oligospermia/therapy , Peritonitis/surgery , Pregnancy , Pregnancy Trimester, Third , PrognosisABSTRACT
OBJECTIVE: Malfunction of peritoneal natural killer cells (NK) may result in endometriosis. The present study was designed to determine whether the decrease in NK cytotoxicity occurs at early and advanced stages of endometriosis and is due to the increase in the NK inhibition receptors. DESIGN: A case control study. SETTING: A tertiary-care infertility center . PATIENT(S): A total of 44 women (controls, n = 11; women with early-stage endometriosis, n = 11; and women with advanced-stage endometriosis, n = 22) were included in this study. INTERVENTION(S): Laparoscopic examination. MAIN OUTCOME MEASURE(S): NK cytotoxicity was determined by assay of (51)Cr release against K562 cells, and the expression of killer cell inhibitory receptors (KIR, including NKB1, GL183, and EB6) in NK cells was examined by flow cytometry. RESULT(S): Women with endometriosis showed a decrease in peritoneal NK cytotoxicities against K562 at early and advanced stages of endometriosis. The expression of KIR (NKB1 and EB6) was significantly elevated in the peritoneal NK cells of women with advanced-stage endometriosis compared with controls. KIR (NKB1) was also significantly increased in peritoneal NK cells of women with advanced-stage endometriosis, compared with those of women with early-stage endometriosis. CONCLUSION(S): The results of this study suggest that the decrease in peritoneal NK cytotoxicities against K562 is observed and that this disease may be partially due to the increased expression of KIR on these NK cells.