Longer distance between umbilical cord insertions is associated with spontaneous twin anemia polycythemia sequence.

INTRODUCTION: The aim of the study was to investigate the placental characteristics in spontaneous twin anemia polycythemia sequence. MATERIAL AND METHODS: A retrospective case-control study of spontaneous twin anemia polycythemia sequence, twin-to-twin transfusion syndrome and normal monochorionic diamniotic twin pregnancies was performed. The primary outcome was placental characteristics. RESULTS: The prevalence of artery-artery anastomoses in spontaneous twin anemia polycythemia sequence and twin-to-twin transfusion syndrome groups was significantly lower than in the normal monochorionic diamniotic twin group (40.0% vs 33.3% vs 88.8%, respectively, P < .001). The total number of vascular anastomoses in the spontaneous twin anemia polycythemia sequence group (with range given in parentheses) was significantly lower than in the two control groups (3 [1-6] vs 5 [1-14] vs 6 [1-20], P = .001/<.001/.794). The number of artery-vein anastomoses in the spontaneous twin anemia polycythemia sequence was significantly lower than in the two control groups (2 [1-5] vs 4 [1-13] vs 5 [1-19], P = .011/.001/1.000). The total diameter of all vascular anastomoses was significantly smaller in the spontaneous twin anemia polycythemia sequence than in the two control groups (0.9 mm [0.3-4.7] vs 5.2 mm [0.8-24.6] vs 7.3 mm [1.0-25.1], P < .001/<.001/.104), as was the total diameter of artery-to-artery anastomoses (0.5 mm [0.3-1.3] vs 2.0 mm [0.5-11.8] vs 2.3 mm [0.7-9.7], P = .003/<.001/1.000) and the total diameter of artery-to-vein anastomoses (0.8 mm [0.3-2.1] vs 4.6 mm [0.8-15.3] vs 4.0 mm [0.2-21.8], P < .001/<.001/1.000). The ratio between the distance of the two umbilical cords insertion points and the placental maximum diameter in the spontaneous twin anemia polycythemia sequence group was significantly larger than in the two control groups (0.78 [0.49-0.99] vs 0.64 [0.32-1.00] vs 0.55 [0.05-1.00], P = .033/<.001/.138). CONCLUSIONS: In spontaneous twin anemia polycythemia sequence placentas, the number of superficial vascular anastomoses is lower, their diameter is smaller and the distance between the two umbilical cord insertion points is longer.

Twin sisters with Hashimoto's thyroiditis and Henoch-Schönlein purpura.

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A donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.

BACKGROUND: Peters anomaly is a rare form of anterior segment ocular dysgenesis, the antenatal image of Peters anomaly had not been reported. We herein showcased a discordant finding of Peters anomaly in a monozygotic twin complicated with twin-twin transfusion syndrome (TTTS) and exhibited its antenatal sonographic images, CASE PRESENTATION: A 38-year-old gravida 2 para 1 pregnant woman visited our clinic at the gestational age of 18 weeks where TTTS stage III was diagnosed and the following laser therapy was done successfully. Ten days after the surgery, the follow-up ultrasound detected the opacity of both fetal eyeballs in the donor twin and thus congenital cataract was suspected initially. Then magnetic resonance imaging (MRI) examination was arranged at the gestational age of 23 weeks, and no central nervous system or other anomaly was found. At the 29 weeks of gestation, the opacity of both fetal eyeballs of the donor twin did not clear. The pregnancy resulted in cesarean section at the gestational age of 37 weeks indicated by malpresentation where two male live births were born. Examination under anesthesia was arranged for donor twin after delivery and Peters anomaly was diagnosed based on central corneal opacity with iridocorneal and corneolenticular adhesions. CONCLUSIONS: The prenatal image of Peters anomaly may present as the opacity of the fetal eyeballs similar to congenital cataract. Some cases of the Peters anomaly had been reported with a genetic abnormality, but since our case presented discordant presentation in monozygotic twin pregnancy where both twins are supposed to share the same genetic make-up, therefore other factors that are epigenetic may be held accountable. Nevertheless, a genetic origin of the anomaly in our case cannot be excluded.

Renal dysfunction in psoriatic patients.

Psoriasis is a common chronic inflammatory disease of the skin that is increasingly being considered as a systemic inflammatory disorder due to its association with cardiovascular, metabolic, pulmonary, renal, liver, and neurologic diseases. Renal involvement is rare but well documented and psoriasis is recognized as an independent factor for CKD and ESKD. A careful monitoring of the urinalysis and of renal function is recommended in psoriatic patients, especially those with moderate-to-severe disease. In case of pathologic findings, the execution of a renal biopsy appears necessary to make an accurate diagnosis and to establish the most appropriate therapeutic strategies to prevent the progression of kidney damage. The mechanisms of kidney involvement are different and not yet fully clarified. We present here two case reports of renal dysfunction during psoriasis. In one case, we diagnosed IgA nephropathy with particularly severe clinical presentation; in the other, an advanced kidney injury due to nephrotoxicity after prolonged CNI treatment.

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome.

Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome

Abstract Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Synchronous Chiari III Malformation and Polydactyly.

BACKGROUND: Chiari III malformation is an extremely rare congenital anomaly. At present, its primary and associated pathognomonic factors remain poorly understood. The authors report a case of a male neonate born with an occipital encephalocoele with herniation of posterior fossa contents associated with bilateral postaxial polydactyly. CASE DESCRIPTION: The patient is a dichorionic, diamniotic twin conceived via assisted reproductive methods; his twin sister has no congenital anomaly. Neurosurgical management included successful repair of the encephalocoele and subsequent cerebrospinal fluid diversion via a ventriculoperitoneal shunt. CONCLUSIONS: Owing to the uniqueness of this patient's presentation, the concurrent diagnoses of Chiari III malformation and polydactyly are discussed in concordance with updated literature.

Síndrome celulitis-adenitis por "Streptococcus agalactiae" en gemelos / Cellulitis-adenitis syndrome by Streptococcus agalactiae in twins

La sepsis tardía por Streptococcus agalactiae, o Streptococcus del grupo B (SGB), es una entidad que aparece entre los 7 días y 3 meses de edad y que suele manifestarse como bacteriemia/sepsis sin foco; no obstante, puede aparecer a modo de infección local, como en el caso del síndrome celulitis-adenitis. Se describen 2 casos clínicos en hermanos gemelos con aparición de sepsis tardía por SGB acompañado de síndrome celulitis-adenitis con un intervalo de separación de 3 semanas

Late-onset sepsis by Streptococcus agalactiae is an entity that appears between 7 days and 3 months of age and it usually manifests as bacteremia/sepsis without focus. However, it may appear as a local infection such as cellulitis-adenitis syndrome. Two clinical cases are described in twins with the occurrence of late-onset sepsis by group B Streptococcus (GBS) with cellulitis-adenitis syndrome in a time interval of 3 weeks

Cognitive outcome in childhood of birth weight discordant monochorionic twins: the long-term effects of fetal growth restriction.

AIM: Intrauterine growth restriction (IUGR) is associated with poorer outcomes in later life. We used a monochorionic twin model with IUGR in one twin to determine its impact on growth and neurocognitive outcomes. METHODS: Monochorionic twins with ≥20% birth weight discordance born in the north of England were eligible. Cognitive function was assessed using the British Ability Scales. The Strength and Difficulties Questionnaire was used to identify behavioural problems. Auxological measurements were collected. Generalised estimating equations were used to determine the effects of birth weight on cognition. RESULTS: Fifty-one monochorionic twin pairs were assessed at a mean age of 6.3 years. Mean birth weight difference was 664 g at a mean gestation of 34.7 weeks. The lighter twin had a General Conceptual Ability (GCA) score that was three points lower (TwinL -105.4 vs TwinH -108.4, 95% CI -0.9 to -5.0), and there was a significant positive association (B 0.59) of within-pair birth weight differences and GCA scores. Mathematics and memory skills showed the largest differences. The lighter twin at school age was shorter (mean difference 2.1 cm±0.7) and lighter (mean difference 1.9 kg±0.6). Equal numbers of lighter and heavier twins were reported to have behavioural issues. CONCLUSIONS: In a monochorionic twin cohort, fetal growth restriction results in lower neurocognitive scores in early childhood, and there remain significant differences in size. Longer term follow-up will be required to determine whether growth or cognitive differences persist in later child or adulthood, and whether there are any associated longer term metabolic sequelae.

Maternal and perinatal outcomes of dichorionic diamniotic twin pregnancies diagnosed with vanishing twin syndrome: a retrospective analysis from a single clinical center.

OBJECTIVES: Multiple pregnancies are known to be associated with adverse maternal and perinatal complications. How-ever, data regarding the outcomes of spontaneously reduced twin pregnancies are limited. In the current study we aimed to evaluate the consequences of the vanishing twin syndrome (VTS) in dichorionic diamniotic twin pregnancies for both mother and baby in our perinatal center. MATERIAL AND METHODS: A total of 711 pregnancies were included into the study. 51 cases of vanishing twin syndrome constituted Group 1, 235 cases of normal twins constituted Group 2, and 425 singleton pregnancies formed Group 3. The pregnancies that had multifetal reduction and monochorionic twinning were excluded from both study group and twin control group. The collected data were as follows: age, gravidity, parity, gestational week at birth, delivery route, birth weight, obstetric complications, and maternal and perinatal outcomes. RESULTS: No significant difference was observed between the groups regarding mean maternal age (p > 0.05). Mean birth weight, gestational age at birth and preterm birth ratio were significantly lower in the Group 2 when compared with Group 1 and Group 3 (all p < 0.001). Adverse perinatal outcomes including very low birth weight (VLBV) and low Apgar scores were more common in Group 1 (p < 0.05), but no significant difference was found between the groups in terms of neona-tal intensive care unit admission and perinatal mortality ratios (p > 0.05). Obstetric complications such as preeclampsia, gestational diabetes and intrauterine growth restriction were significantly higher in Group 2 than in Group 1 and Group 3 (all p < 0.05). However, severe maternal morbidities were similar among three groups (p = 0.141). CONCLUSIONS: VTS is seems to be associated with VLBV and low Apgar scores. However, the incidence of severe maternal and perinatal morbidity and mortality in pregnancies with VTS is similar to other pregnancies.

Hermanos gemelos, mismo motivo de consulta, días distintos / Twin brothers, same reason for consulting, different days

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Severe laryngeal stenosis in newly born twins with 22q11.2 deletion syndrome: A case report.

Chromosome 22q11.2 deletion syndrome is common and presents with a range of clinical features from cardiac malformations to hypocalcemia. Laryngeal anomalies are not a common feature of this syndrome. We describe newly born twins who presented with unexpected severe birth depression secondary to severe type IV glottic webs requiring extensive resuscitation and emergency tracheostomy. They were diagnosed postnatally to have deletion of 22q11.2. The successful resuscitation of these infants at birth was only possible because they were born in a tertiary care hospital. This report shows the critical nature of prenatal diagnosis of 22q11.2 deletion syndrome.

Neonatal lupus erythematosus with congenital heart block in twins.

Background - Neonatal lupus erythematosus is an uncommon acquired autoimmune disease caused by transplacental passage of maternal antibodies SSA/Ro, SSB/La or U1 ribonucleoproteins. The most common clinical manifestations are skin rash, cardiac lesions, thrombocytopenia, anemia and hepatosplenomegaly. Complete congenital heart block is usually irreversible needing a pacemaker implantation in two-thirds of cases. Cases report - We report neonatal lupus erythematosus with complete congenital heart block in twins. Newborns were delivered by caesarean section at week 38 of gestation with a heart rate regular at 70 beats per minute. Both twins and mother were positive for antinuclear, anti-SSA, and anti-SSB antibodies. Twins received single-chamber pacemaker implants at day 12 of life. The evolution was immediately favorable with a heart rate around 110 beats per minute. The follow-up was 2 years. The twins are currently asymptomatic. Conclusion - Complete congenital heart block is the most serious manifestation of the neonatal lupus erythematosus associated with significant morbidity and mortality.

Postnatal survival after endoscopic equatorial laser for the treatment of twin-to-twin transfusion syndrome.

BACKGROUND: Endoscopic laser coagulation of placental anastomoses is the first-line treatment for severe twin-to-twin transfusion syndrome. A recent randomized controlled trial reported that laser coagulation along the entire vascular equator was associated with a similar dual survival and survival of at least 1 twin compared with the group that was treated with the selective technique. In addition, there was a significantly lower incidence of postoperative recurrence of twin-to-twin transfusion syndrome and the development of twin anemia-polycythemia sequence in the equatorial group. OBJECTIVE: The purpose of this study was to report on neonatal survival in twin-to-twin transfusion syndrome pregnancies that were treated with endoscopic laser therapy with the use of the equatorial technique and to examine the relationship between preoperative factors and twin loss. STUDY DESIGN: Endoscopic equatorial laser therapy was carried out as the primary treatment for twin-to-twin transfusion syndrome in all consecutive monochorionic diamniotic twin pregnancies that were referred at a single fetal surgery Center over a 4-year period. All visible placental anastomoses were coagulated; additional laser ablation of the placental tissue between the coagulated vessels was carried out. Pre-laser ultrasound data, periprocedural complications, pregnancy outcome, and postnatal survival at hospital discharge were recorded and analyzed. RESULTS: A total of 106 pregnancies were treated during the study period. Median gestational age at laser therapy was 19.7 weeks (range, 15.1-27.6 weeks). There was postoperative recurrence of twin-to-twin transfusion syndrome or the development of twin anemia-polycythemia sequence in 2 (1.9%) and 2 (1.9%) cases, respectively. The survival rates of both and at least 1 twin were 56.6% and 83.0%, respectively. Donor survival was significantly lower compared with the recipient co-twin (64.2% vs 75.5%, respectively; P < .05). The rate of fetal death, which was the most common cause of twin loss, was significantly higher in donors compared with recipient fetuses (23.6% vs 10.4%, respectively; P < .05). In cases with absent or reversed end-diastolic velocity in the donor umbilical artery, dual and donor survival rates were significantly lower compared with the remaining twin-to-twin transfusion syndrome pregnancies (40.0% vs 64.8% and 40.0% vs 76.1%, respectively; P < .05). There were no significant differences between the 2 groups in the survival of at least 1 twin and in the recipient survival. CONCLUSIONS: Endoscopic equatorial laser therapy was associated with a survival of both and at least 1 twin of approximately 55% and 83%, respectively, with a low rate of recurrent twin-to-twin transfusion syndrome and twin anemia-polycythemia sequence. In addition, the preoperative finding of abnormal donor umbilical artery Doppler on ultrasound identified a subgroup of twin-to-twin transfusion syndrome pregnancies with a lower dual survival rate caused by increased intrauterine deaths of donor twins.

Heritability and familiality of neurological soft signs: evidence from healthy twins, patients with schizophrenia and non-psychotic first-degree relatives.

BACKGROUND: Neurological soft signs (NSS) have long been considered potential endophenotypes for schizophrenia. However, few studies have investigated the heritability and familiality of NSS. The present study examined the heritability and familiality of NSS in healthy twins and patient-relative pairs. METHOD: The abridged version of the Cambridge Neurological Inventory was administered to 267 pairs of monozygotic twins, 124 pairs of dizygotic twins, and 75 pairs of patients with schizophrenia and their non-psychotic first-degree relatives. RESULTS: NSS were found to have moderate but significant heritability in the healthy twin sample. Moreover, patients with schizophrenia correlated closely with their first-degree relatives on NSS. CONCLUSIONS: Taken together, the findings provide evidence on the heritability and familiality of NSS in the Han Chinese population.

Vanishing twin syndrome: is it associated with adverse perinatal outcome?

OBJECTIVE: To evaluate whether vanishing twin syndrome (VTS) is associated with adverse perinatal outcome. DESIGN: A retrospective cohort study investigating the impact of VTS on perinatal outcome was conducted. Parturients were classified into three groups: those pregnancies that started with double fetal sacs and spontaneously reduced into one (VTS), those with dichorionic twins, and those with singleton pregnancies. Statistical analysis included multiple logistic regression models to control for possible confounders. SETTING: Tertiary university medical center. PATIENT(S): The study involved 252,994 singleton deliveries between the years 1988 and 2012. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The impact of VTS on perinatal outcome. RESULT(S): During the study period, 278 pregnancies with VTS were compared with 1,801 pregnancies of dichorionic twins and 252,994 pregnancies of singletons. A significant linear association was documented among the three groups and various adverse outcomes, including gestational diabetes mellitus (GDM), intrauterine growth restriction (IUGR), very low birth weight (VLBW), and perinatal mortality. The higher risk was noted in the VTS group, and the lowest in singletons. Using multivariable logistic regression models, while controlling for confounders such as fertility treatment and maternal age, VTS (as compared with singletons) was found to be an independent risk factor for several adverse perinatal outcomes including GDM, IUGR, VLBW, low Apgar scores, and perinatal mortality (adjusted odds ratios with their respective 95% confidence intervals, 1.4 [1.01-2.0], 2.7 [1.7-4.3], 6.9 [4.7-10.2], 1.9 [1.1-3.3], 2.4 [1.2-4.5]). CONCLUSION(S): Pregnancies with VTS are associated with an adverse perinatal outcome, even after controlling for confounders such as fertility treatment and maternal age.