A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita.

Background: Aplasia cutis congenita (ACC), also called congenital cutaneous hypoplasia, is a serious disease in newborns. Children with ACC often die due to wound infections and bleeding. How the incidence of ACC can be reduced is a question that needs to be solved urgently. Case report: We reported a mother who had delivered two children with ACC, both of whom were diagnosed with ACC type VI, skin defects, limb deformities, and congenital heart malformations. One infant died a few days after birth, and another died in utero in the second trimester. Genetic testing in both children showed a heterozygous mutation in the ITGB4 gene [17q25 exon 8, c. 794 dupC, (p. Ala266fs) and exon 15, c. 1860G > A]. The mother later successfully gave birth to a healthy baby using Preimplantation Genetic Testing for Monogenic disorders(PGD-M). Conclusion: The PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.

[Application of extracorporeal membrane oxygenation in the treatment of persistent pulmonary hypertension of the newborn]. / 体外膜肺氧合技术在持续肺动脉高压新生儿救治中的临床应用.

OBJECTIVES: To study the clinical value of extracorporeal membrane oxygenation (ECMO) in the treatment of persistent pulmonary hypertension of the newborn (PPHN). METHODS: A retrospective analysis was performed on the medical data of 11 neonates with PPHN who were treated with ECMO in the Neonatal Intensive Care Unit of Zhongshan People's Hospital from January 2015 to December 2021, involving the neonates' general information, clinical diagnosis, laboratory results, duration of ECMO treatment, complications during ECMO treatment, length of hospital stay, and outcome. RESULTS: Of the 11 neonates, 10 (91%) had successful weaning from ECMO, and 8 (73%) survived. For the 11 neonates, the mean duration of ECMO treatment was (81±50) hours (range: 26 to 185 hours), the mean duration of ventilator use was (198±105) hours (range: 57 to 392 hours), and the mean length of hospital stay was (22±15) days (range: 2 to 49 days). The oxygenation index and blood lactate level were significantly improved after 24 hours of ECMO treatment among the 11 neonates (P<0.05). Ten neonates had significantly reduced pulmonary artery pressure after 24 hours of ECMO treatment (P<0.05). One neonate had a progressive increase in the pulmonary artery pressure during EMCO treatment, succumbing to death. This neonate was diagnosed with alveolar capillary dysplasia based on the histopathological findings of the lung tissue and whole-exome sequencing results. Among the 11 children, 5 had intracranial hemorrhage, 1 had disseminated intravascular coagulation, 1 had gastric hemorrhage, 2 had pulmonary hemorrhage, 1 had renal insufficiency, and 3 had bleeding at the puncture site during ECMO treatment. CONCLUSIONS: ECMO is effective for the treatment of PPHN, however, the high incidence of complications of ECMO treatment suggests that it is important to carefully assess the indications and timing of ECMO treatment and improve the management of ECMO, which can improve the weaning rate and survival rate.

The truths behind the statistics of surgical treatment for hypertensive brainstem hemorrhage in China: a review.

Hypertensive brainstem hemorrhage (HBSH) is of high morbidity and mortality rate. But many clinical studies were written in Chinese and had not been reviewed. A systemic review of Chinese clinical studies for HBSH was performed. A systemic literature search in PubMed, Web of Science, China National Knowledge Infrastructure, and Weipu database and Wanfang database up to March 2020 was performed. Clinical control studies including a surgical evacuation (SE) group and a conservative management (CM) group were included. The clinical outcome and mortality rate were compared. Ten cohort studies were included, involving 944 participants (304 in the SE group and 640 in the CM group). All included patients were comatose, with the average age ranged from 45 to 65 years old. Among five studies using mRS or GOS as outcome score, a total of 16.6% (89/535) of patients achieve self-maintenance with minor disabilities, including 26.8% (34/127) in the SE group and 13.5% (55/408) in the CM group. The overall mortality rate in the SE group was 27.6%, ranged from 9.3 to 60% among different studies. The overall mortality rate in the CM group was 60.6%, ranged from 18.5 to 100.0%. Elder and comatose HBSH patients are not contraindicated for surgery. The review showed that this group of patients obtained a better outcome and lower mortality rate after surgical treatment. The quality of included studies was relatively low, but a high-level clinical study on HBSH is of great difficulty, as both clinicians and patients faced various sociological issues rather than pure medical problems.

Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.

Background: Aplasia cutis congenita is a congenital disorder with the absence of skin, muscle and(or) bone. It usually affects the scalp. The presence of a large scalp defect can be potentially serious when complicated with hemorrhage and infection. Early healing of this condition is beneficial to improve the prognosis of infants. Study case: A full-term newborn male was born with a round-shaped defect at the vertex of the scalp and skull (dimensions, 8 cm × 9 cm). The infant had a large deletion encompassing the 15.1 region of chromosome 15, including the DLL4 gene. Genetic testing was positive for Adams-Oliver syndrome (AOS). After two months of recombinant human epidermal growth factor gel combined with kangfuxin solution therapy, the skin defects of the scalp healed remarkably. The infant had regular follow-up appointments. At the age of 5 months, the defect became smaller, hairless, and showed good granulation tissue. At 2 years of age, the child's Gesell Developmental Schedules was 70. Conclusion: Recombinant human epidermal growth factor gel combined with kangfuxin solution was a successful conservative treatment for an infant with a large scalp defect accompanied by AOS.

Spinal arachnoiditis followed by intrathecal tigecycline therapy for central nervous system infection by extremely drug-resistant Acinetobacter baumannii.

In prior research, intrathecal tigecycline was successfully used to treat central nervous system infection by extensively drug-resistant Acinetobacter baumannii. However, little is known about its safe dose and adverse reactions. This study reports the case of a 28-year-old male patient who was diagnosed with central nervous system infection by extensively drug-resistant A. baumannii after the removal of a ventriculoperitoneal shunt. Intravenous and intrathecal tigecycline were administrated simultaneously. Spinal arachnoiditis was discovered after nine doses of intrathecal tigecycline. Spinal arachnoiditis was resolved after discontinuation of the antibiotic. This is the first report of an adverse reaction to intrathecal tigecycline. The case was complicated by spinal arachnoiditis, which obstructed the assessment of cerebrospinal fluid. The appropriate dose and administration schedule of intrathecal tigecycline remain to be determined.