BACKGROUND: This case report presents a rare combination of congenital anomalies in an otherwise healthy male infant born at 36 weeks. The infant was diagnosed with congenital maxillomandibular synechia, ectrodactyly, and ankyloglossia superior syndrome (ASS).
METHODS: Inability to open the mouth completely, feeding challenges, and a cleft palate. The infant was stabilized through successful positive pressure ventilation via a face mask at birth and enteral feeding was initiated via a feeding gastrostomy.
RESULTS: Diagnostic tests revealed a midline palatal cleft, hypoplastic jaws, persistent metopic suture, and a bony fusion at the midline.
METHODS: Sectioning of the bony spur along the midline and achieving a mouth opening of 2 cm post-manipulation. The patient is under follow-up, with future treatment plans including cleft palate correction at 12 months and potential frontomandibular and lower jaw advancement depending on growth trajectories.
UNASSIGNED: This case underscores the complexity of managing multiple congenital anomalies and the need for individualized treatment plans.

UNASSIGNED: Pregnancy is accompanied by several physiological changes such as altered salivary flow rate, mucosal immunity and altered microbial flora. This may predispose pregnant women to oral health problems. This could be accentuated by oral health neglect, polypharmacy and a host of other factors, including dietary modification. However, a very significant percentage of women are not counselled on oral health during pregnancy. Lack of proper oral healthcare and awareness predispose pregnant women to oral and odontogenic infections, which can lead to severe complications. The manuscript aims to present a rare case of Ludwig\'s angina (LA) in a full-term pregnant woman requiring immediate attention.

UNASSIGNED: Severe tricuspid regurgitation (TR) causing cyanosis with patent foramen ovale (PFO) and right-to-left atrial shunting requires a precise diagnosis for optimal therapy. Tricuspid valve prolapse (TVP) can lead to TR and is sometimes overlooked, especially in complex cases with factors like pulmonary hypertension (PH). We present an infant with cyanosis and profound TR after high-altitude exposure, initially misattributed to PH but found to be primarily due to spontaneous chordae tendineae rupture and TVP. This case underscores the challenges in diagnosing TR-induced cyanosis.
UNASSIGNED: The 3-month-old infant rapidly developed cyanosis, hypoxemia, right atrial enlargement, severe tricuspid regurgitation (TR), and patent foramen ovale (PFO) shunting after high-altitude exposure. Although echocardiography revealed tricuspid valve prolapse (TVP), initial consideration linked TR and right-to-left shunting to pulmonary hypertension (PH) due to the temporal correlation with rapid altitude exposure. Despite hemodynamic stability and the absence of respiratory distress after respiratory support and combined PH medication therapy, the persistent hypoxemia did not reverse as expected. This treatment outcome and repeated echocardiograms reminded us that TR was primarily caused by TVP rather than PH alone. Intraoperative exploration confirmed that TVP was caused by a rupture of TV chordae tendineae and anterior papillary muscle head, and the chordae tendineae/papillary muscle connection was reconstructed. After surgery, this patient was noncyanotic with an excellent long-term prognosis, a trivial TR with normal TV function being observed echocardiographically.
UNASSIGNED: TR-induced cyanosis can be not only a consequence of PH and right-sided heart dilation but also a primary condition. Repetitive reassessment should be undertaken with caution, particularly when patients are not improving on therapy in the setting of conditions known to predisposition to secondary TR. Since TVP caused by rupture of the chordae or papillary muscles is rare but fatal in children, early diagnosis is clinically substantial to proper management and satisfactory long-term outcomes.

Data on reproductive safety of recently approved newer antipsychotics are limited. Here, we report a case vignette of a patient with schizophrenia treated with cariprazine during pregnancy. The patient became pregnant unexpectedly while taking medication. As a result of shared decision-making, the patient and her psychiatrist decided to continue the treatment, which proved to be protective against relapse and had no adverse effect either on the course of pregnancy or on the health of the newborn. Cariprazine maintenance treatment during pregnancy was found to be safe in our case.

Background: Human papilloma virus (HPV) infection and the management of its persistence is still a great medical challenge. Recently, scientific evidence has supported the potential therapeutic effects of four combined natural molecules-epigallocatechin gallate (EGCG), folic acid, vitamin B12 and hyaluronic acid (HA)-in counteracting HPV DNA positivity and related cytological lesions. Methods: Each patient of these five clinical cases had persistent HPV positivity in the anogenital site and assumed a dietary supplement based on a combination of 200 mg of EGCG, 50 mg of HA, 1 mg of vitamin B12 and 400 mcg of folic acid (Pervistop®, Farmares s.r.l., Rome, Italy) at a dosage of 1 or 2 caps/day for 6 or 3 months, respectively, depending on clinical history. Results: After treatment, all the patients reported a negative HPV DNA test and improved cytological lesions, thus demonstrating the ability of these combined molecules to counteract both anal and cervical HPV infection and related manifestations. Conclusions: Overall, these data corroborate previous evidence about the effectiveness of such natural molecules in the management of HPV infection and its persistence. Naturally, further studies with a larger population and long-term follow-up will contribute to reinforce the positive effects of this dietary supplement in counteracting HPV infection.

BACKGROUND: Cervical cancer is the fourth most common cancer in women, the highest mortality being found in low- and middle-income countries. Abdominal parietal metastases in cervical cancer are a very rare entity, with an incidence of 0.1-1.3%, and represent an unfavorable prognostic factor with the survival rate falling to 17%. Here, we present a review of cases of abdominal parietal metastasis in recent decades, including a new case of a 4.5 cm abdominal parietal metastasis at the site of the scar of the former drain tube 28 months after diagnosis of stage IIB cervical cancer (adenosquamous carcinoma), treated by external radiotherapy with concurrent chemotherapy and intracavitary brachytherapy and subsequent surgery (type B radical hysterectomy). The tumor was resected within oncological limits with the histopathological result of adenosquamous carcinoma. The case study highlights the importance of early detection and appropriate treatment of metastases in patients with cervical cancer. The discussion explores the potential pathways for parietal metastasis and the impact of incomplete surgical procedures on the development of metastases. The conclusion emphasizes the poor prognosis associated with this type of metastasis in cervical cancer patients and the potential benefits of surgical resection associated with systemic therapy in improving survival rates.

The effects of preterm birth, neonatal morbidities and environmental influences on infant sleep development is an important yet under-researched topic, with little known about normative sleep for infants born sick or preterm. The aim of this prospective, observational longitudinal study was to evaluate maternal perceptions and degree of bother with infant sleep behaviours and feeding outcomes across the first 9 months after discharge for sick/preterm infants cared for in the neonatal intensive care unit (NICU) and for healthy term-born infants. This paper reports outcomes for the sick/preterm cohort (I = 94) that were recruited from two NICUs in Perth, Western Australia. Total bother scores were on average 20.2% higher at 9 months than at two weeks post-discharge (p < 0.001). Increased night waking frequency, evening settling duration and crying duration were all positively associated with total bother scores. Maternal confidence scores were negatively associated with maternal bother scores; with each unit increase in confidence, maternal bother decreased by 8.5% (p < 0.001). Covariates such as birth gestation, breastfeeding status and multiple births were not associated with maternal bother. Families may benefit from additional support when experiencing increased night waking frequency and crying and settling durations in the first 9 months after discharge from NICU.

Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1-2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in TP53 (p.R306*) and a deletion in PIK3R1 were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via TP53 as an early event and PIK3R1 as a late event.

BACKGROUND: Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system. However, serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns either. The featured imaging manifestations play an important role in diagnosing Menkes disease. To our knowledge, there are few reports on the systemic imaging manifestations of Menkes disease.
METHODS: A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient\'s hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital.
CONCLUSIONS: A comprehensive and intuitive understanding of the disease\'s imaging manifestations can help clinicians to identify the disease and avoid delays in care.

BACKGROUND: Kawasaki disease (KD) is an acute systemic immune vasculitis affecting multiple organs and systems in children, and is prevalent in children under 5 years of age. Muscular weakness is a rare manifestation of KD, and only 11 pediatric patients with KD combined with muscular weakness have been reported, of which evidence of myositis was found in 2/3 of the patients, and 1/3 could not be explained by myositis, the mechanism of which is still unclear. Cases of KD combined with bladder retention are even more rare, and there has been only 1 case report of KD combined with bladder retention in a child with no previous underlying disease.
METHODS: We report a 22-month-old Asian child with incomplete Kawasaki disease (IKD) who initially presented with fever and progressive muscular weakness in the lower extremities, followed by the bladder and bowel retention abnormalities and rapid onset of heart failure, respiratory failure and shock. The child developed coronary artery ectasia (CAA) without the main clinical features of KD such as rash, conjunctival congestion, desquamation of the extremity endings, orofacial changes and enlarged lymph nodes in the neck. Creatine kinase and electromyography were normal. Temperature gradually normalized and muscle strength recovered slightly after intravenous immunoglobulin. The child could be helped to walk after 1 week of aspirin combined with steroid therapy.
CONCLUSIONS: We present the case of a 22-month-old child with IKD. The child began with progressive muscular weakness in the extremities, followed by the bladder and bowel retention abnormalities, and rapidly developed heart failure, respiratory failure, and shock. Despite early failure to detect the disease, the child recovered rapidly and had a favorable prognosis. KD comorbidities with muscular weakness as the main manifestation are uncommon. This is the first case report of IKD combined with both muscular weakness and bladder and bowel retention, which may provide clinicians with diagnostic and therapeutic ideas, as well as a basis for future exploration of the mechanisms of KD combined with muscular weakness or bladder and bowel retention abnormalities.