Objective:To study the clinical manifestations, genetic profiles and treatment of Kagami-Ogata syndrome (KOS).Methods:A neonate admitted to our hospital was genetically diagnosed of KOS from amniocentesis sampling. The phenotype, genotype and treatment of the neonate were analyzed. Multiple databases were searched using key words including "Kagami-Ogata syndrome", "14q32 microdeletion syndrome", "coat-hanger ribs", "paternal uniparental disomy (pUPD)(14) " from the inception of the databases to Jan. 23th 2023. The clinical features, genotype and treatment of patients from the literature were summarized.Results:The neonate in our hospital was born at 30 weeks gestational age with a birth weight of 2 035 g. Prenatal ultrasound indicated overgrowth, bilateral fetal renal pelvis dilatation (FRPD), dilatation of intestines in lower abdomen, clenched hands with overlapping fingers and polyhydramnios. After birth, the neonate showed progressively worsening respiratory distress, distinct facial features (small jaw, short neck, flat nasal bridge, upward-facing nostrils, small and malformed ears with auricular deformity and narrow external auditory canals), bell-shaped thorax, diastasis recti and abnormal posture (overlapping fingers, clenched fists), as well as feeding difficulties, recurrent fever and dependence of respiratory support. Whole exome sequencing (WES) revealed a 268.2Kb deletion (101034306_101302541) in 14q32.2 region on both the neonate and the mother and the father was otherwise normal. The prognosis was poor and the parents refused further treatment. The neonate died at one month of age after two days of palliative care. A total of 36 articles were identified in the literature review, including 78 KOS cases with complete clinical data (a total of 79 cases adding our case).The primary clinical manifestations included distinctive facial and thoracic abnormalities (79/79, 100%), polyhydramnios (71/75, 94.7%), feeding difficulties (55/63, 87.3%), abdominal wall defects (57/72, 79.2%), joint contractures (39/70, 55.7%) and dependence of respiratory support (29/56, 51.8%). Long-term follow-up revealed 86.8% (59/68) experienced physical, movement and intellectual development delay, 39.7% (25/63) died or gave up treatments within five years. Genetic testing showed pUPD in 44 cases (55.7%), maternal deletions in 23 cases (29.1%), epimutations in 8 cases (10.1%) and unreported variations in 4 cases (5.1%).Conclusions:KOS is a genetic imprinting disorder affecting multiple organs. Prenatal screening can detect abnormalities such as polyhydramnios. Specific clinical signs, radiological findings and 14q32 gene analysis are helpful for the diagnosis of the disease.

Objective:To study the clinical characteristics and risk factors of nephrocalcinosis in preterm infants.Methods:From March 2021 to August 2021, all preterm infants admitted to NICU of our hospital were retrospectively analyzed. The infants were assigned into nephrocalcinosis group and non-nephrocalcinosis group according to urinary tract ultrasound. Clinical data including gestational age, birth weight(BW), nutritional support strategy and complications were reviewed.Results:A total of 40 preterm infants (<34 weeks) were enrolled. 9 cases were in the nephrocalcinosis group and 31 cases in the non-nephrocalcinosis group. The nephrocalcinosis group had lower BW[(1 167±214) g vs.(1 586±215) g], higher calcium [6.9 (5.1, 8.7) g vs.3.3 (2.1, 6.8) g] and vitamin D intake [3.2(2.5, 4.2)×10 4U vs.1.7(1.1, 3.2)×10 4U] during hospitalization. No significant differences existed between the two groups on the following items:blood calcium and phosphate, 25-hydroxyvitamin D, feeding strategy, time to reach full enteral feeding(TFF), furosemide dosage and respiratory support duration ( P>0.05). In the nephrocalcinosis group, the median age of diagnosing nephrocalcinosis was 40.0(30.0, 52.5)d after birth. 5 cases showed bilateral nephrocalcinosis. 5 cases in the nephrocalcinosis group received renal tubule function examination,4 cases had increased urine β2 microglobulin and 2 cases had increased urine α1 microglobulin. 7 cases had elevated urine calcium in the nephrocalcinosis group. Follow-up showed that nephrocalcinosis disappeared 3-9 months after birth. Conclusions:BW, total calcium and vitamin D intake are risk factors for nephrocalcinosis in preterm infants. Increased urine β2 microglobulin and calcium levels are common co-morbidities in preterm infants with nephrocalcinosis.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.

Sound financing mechanism is an important support for the development of health system.In response to the problems exposed in the health system during the COVID-19 pandemic,OECD countries have proposed intervention directions and investment strategies to strengthen the resilience of the health system.The investment allocation in strengthening core public health capabilities,proactive material reserves,and coordinated supply from OECD countries were analyzed,in order to explore the characteristics and effectiveness,which could provide a reference for strengthening the resilience of China's health system.