UNASSIGNED: Poland syndrome is an occasional congenital malformation characterized by unilateral chest wall dysplasia and ipsilateral upper limb abnormalities. An association between Poland syndrome and breast cancer has been reported, but no clear etiological link between Poland syndrome and breast tumors has been established. We report a case of Poland syndrome combined with breast cancer and analyzed the clinical features of breast cancer in this case and its influence on the choice of treatment for breast cancer.
UNASSIGNED: In February 2022, we admitted a 47-year-old woman with Poland syndrome involving the right limb combined with right-sided breast cancer. After admission, the patient was given eight cycles of neoadjuvant therapy and underwent a modified radical mastectomy on September 7, 2022. Absence of right pectoralis major muscle and pectoralis minor muscle, thoracic deformity, and an adhesive band along the side of the sternum to the right axilla were observed during the operation. After surgery, the incision achieved grade-A healing, and the targeted therapy was continued for 1 year. The patient was followed up for 8 months after surgery, and the limb function of the affected side recovered well, and no obvious subcutaneous effusion, flap necrosis, upper limb edema, and other complications were observed.
UNASSIGNED: The anatomic variation of patients with Poland syndrome has some influence on the selection of surgical methods for breast cancer, but whether it would affect the prognosis of patients is unknown. To clarify the relationship between Poland syndrome and breast cancer, we need more cases to conduct etiological studies in the future.

UNASSIGNED: Congenital pulmonary hypoplasia (CPH) is a rare pulmonary disease featured by incomplete development of pulmonary tissues. Its diagnosis is still a challenge as patients are usually misdiagnosed as atelectasis.
UNASSIGNED: A female neonate was admitted to our hospital due to post-birth jaundice for 12 hrs. Physical examination showed accelerated breathing. There was no respiratory sound in the left lung. Chest film indicated decline of lucency in the left lung. Chest CT scan indicated absence of left lung and primary bronchus of the left lung. The boundary between left mediastinum was not clearly displayed. Three-dimensional CT scan indicated absence of left lung and left principal bronchus. Cardiac ultrasonography confirmed congenital heart disease. She showed ectopic kidney. Finally, she was diagnosed with CPH concurrent with congenital heart disease and ectopic kidney.
UNASSIGNED: On 17-month follow-up visit, the patient is still survived, but she presents with obstruction in ventilation function.

Uniformly narrowed internal carotid artery (ICA) without proximal steno-occlusion or parietal anomalies is often subject to misdiagnosis due to lack of awareness. We combined our experiences of 4 cases with 29 previously published cases to form a retrospective series including 18 cases of ICA hypoplasia and 15 cases of ICA acquired narrowing. The ultrasonic manifestations of ICA acquired narrowing and ICA hypoplasia are extremely similar, but narrowed ICA without intracranial occlusion or bottle-neck-sign highly indicates ICA hypoplasia, whereas moyamoya vessels favor ICA acquired narrowing, thus promoting the understanding of and discriminability between the two on neurovascular ultrasound.

BACKGROUND: Central retinal artery occlusion (CRAO) is an emergent ophthalmic disease which is commonly caused by atherosclerosis, thromboembolism, and arteriospasm. Here, we report a case of CRAO which is caused by extreme rare bilateral internal carotid artery (ICA) hypoplasia complicated with patent foramen ovale (PFO). The cardiogenic emboli blocked central retinal artery through unclosed foramen ovale and specific blood flow pathway.
METHODS: This report describes a case of a 46-year-old woman sudden onset with amaurosis fugax for about 20 min and persistent visual impairment of left eye. Fundus fluorescein angiography shows the arm-retinal circulation time of left eye is 25 s, indicating that the occlusion occurs in the pathway from aortic arch to ophthalmic artery. The MRA and CTA examinations reveal the bilateral ICA hypoplasia and variation of Wills circle. Furthermore, transesophageal echocardiography (TEE) confirms the PFO and cardiogenic embolic event.
CONCLUSIONS: This work presents a CRAO case caused by rare congenital hypoplasia of ICA complicated with PFO, reminding us every single cause of vascular disease should be investigated carefully and the TOAST typing of cerebrovascular disease can be of great reference to the ocular vascular disease.

Pulmonary fibrosis is a severely disabling disease often leading to death. CCN2 (Cellular Communication Network factor 2, also known as CTGF) is a known mediator of fibrosis and clinical trials studying anti-CCN2 efficacy in pulmonary fibrosis are currently underway. Fork head box D1 (FoxD1) transcription factor is transiently expressed in several mesenchymal cell types, including those of fetal lungs. Differentiation of FoxD1-progenitor derived pericytes into myofibroblasts involves CCN2 expression and contributes importantly to maladaptive tissue remodeling in for example kidney and lung fibrosis models. To generate a model for studying the contribution of CCN2 expression in FoxD1-progenitor derived cells to development of fibrotic tissue remodeling, we set out to establish a FoxD1Cre - CCN2flox/flox mouse colony. However, all double-transgenic mice died soon after birth due to asphyxia. Histopathological examination revealed a reduction in alveolar space and lung weight, and subtle axial (thoracic and cervical) skeletal deformities. Together with the previously reported association of a FoxD1 containing locus with human adolescent idiopathic scoliosis, our data suggest that the fatal pulmonary hypoplasia resulting from selective deletion of CCN2 from FoxD1-progenitor derived mesenchymal cells developed secondary to impaired breathing movements due to aberrant axial skeletogenesis.

Pulmonary fibrosis is a severely disabling disease often leading to death. CCN2 (Cellular Communication Network factor 2, also known as CTGF) is a known mediator of fibrosis and clinical trials studying anti-CCN2 efficacy in pulmonary fibrosis are currently underway. Fork head box D1 (FoxD1) transcription factor is transiently expressed in several mesenchymal cell types, including those of fetal lungs. Differentiation of FoxD1-progenitor derived pericytes into myofibroblasts involves CCN2 expression and contributes importantly to maladaptive tissue remodeling in e.g. kidney and lung fibrosis models. To generate a model for studying the contribution of CCN2 expression in FoxD1-progenitor derived cells to development of fibrotic tissue remodeling, we set out to establish a FoxD1Cre - CCN2flox/flox mouse colony. However, all double-transgenic mice died soon after birth due to asphyxia. Histopathological examination revealed a reduction in alveolar space and lung weight, and subtle axial (thoracic and cervical) skeletal deformities. Together with the previously reported association of a FoxD1 containing locus with human adolescent idiopathic scoliosis, our data suggest that the development of fatal pulmonary hypoplasia caused by selective deletion of CCN2 from FoxD1-progenitor derived mesenchymal cells was secondary to aberrant axial skeletogenesis.

This study evaluated the influence of the degree of donor bone marrow (BM) hyperplasia on patient clinical outcomes after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Twelve patients received allo-HSCT from hypoplastic BM donors between January 2010 and December 2017. Forty-eight patients whose donors demonstrated BM hyperplasia were selected using a propensity score matching method (1:4). Primary graft failure including poor graft function and graft rejection did not occur in two groups. In BM hypoplasia and hyperplasia groups, the cumulative incidence (CI) of neutrophil engraftment at day 28 (91.7% vs. 93.8%, P=0.75), platelet engraftment at day 150 (83.3% vs. 93.8%, P=0.48), the median time to myeloid engraftment (14 days vs. 14 days, P=0.85) and platelet engraftment (14 days vs. 14 days, P=0.85) were comparable. The 3-year progression-free survival, overall survival, CI of non-relapse mortality and relapse were 67.8% vs. 71.7% (P=0.98), 69.8% vs. 77.8% (P=0.69), 18.5% vs. 13.6% (P=0.66), and 10.2% vs. 10.4% (P=0.82), respectively. In multivariate analysis, donor BM hypoplasia did not affect patient clinical outcomes after allo-HSCT. If patients have no other suitable donor, a donor with BM hypoplasia can be used for patients receiving allo-HSCT if the donor Complete Blood Count and other examinations are normal.

OBJECTIVE: This study investigated the prevalence, type, and location of enamel defects in the permanent teeth of patients with complete unilateral or bilateral cleft lip and palate (CLP), and compared the prevalence and characteristics of defects between CLP patients and non-CLP individuals.
METHODS: We examined completely erupted permanent dentition, except for third molars, of CLP patients and non-CLP individuals of both sexes, 9-36 years of age, and analyzed corresponding panoramic radiographs. Two independent examiners performed clinical examinations in accordance with the Modified Developmental Defects of Enamel index.
RESULTS: A total of 210 (87.9%) CLP patients and 194 (41.4%) non-CLP individuals had at least one enamel defect; these were more prevalent in the CLP group than in the non-CLP group. Upper teeth were primarily affected by enamel defects associated with the cleft; defects were most prevalent on the cleft side in CLP patients, followed by the non-cleft side in CLP patients, and then by non-CLP individuals.
CONCLUSIONS: Enamel defects were more common in CLP patients than in non-CLP individuals. Among CLP patients, enamel defects were more prevalent in the cleft side of the maxilla; the central incisor was the most commonly affected tooth in this quadrant.

We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4).
He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before.
Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.

Successful raising of a distally based anterolateral thigh (dALT) flap mainly depends on a well-developed lateral circumflex femoral artery (LCFA) descending branch and an intact vascular connection between the descending branch and the vascular network of the knee. However, in some clinical scenarios, the descending branch is hypoplastic or the vascular connection of the knee is compromised. We present six cases of using dALT flaps in soft tissue defect reconstruction of the knee with either of the above-mentioned conditions. In these cases, the flaps relied on the reverse blood flow through the rectus femoris branch and showed complete survival postoperatively. We believe that the reverse flow from the rectus femoris branch could be an alternative blood supply for the dALT flap in the presence of hypoplasia of the LCFA descending branch or compromise of the vascular connection between the descending branch and the articular geniculate network.