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Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene☆
Linhares, Natália D.
Salgado, Mauro Ivan
da Costa, Silvia S.
Valadares, Eugênia R.
Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development.
•We report a boy with 7q-, dental developmental abnormalities and sacral agenesis.•We propose novel roles for SHH gene related to dental developmental abnormalities.•The MNX1 gene may be associated with caudal deficiency sequence in 7q- patients.•HTR5A and EN2 may be related to abnormal brain development in 7q- patients.
OFC, occipitofrontal circumference; BERA, brainstem evoked response audiometry; aCGH, array comparative genomic hybridization; CNV, copy number variation; FISH, fluorescence in situ hybridization; ASD, autism spectrum disorder; 7q deletion; Comparative genomic hybridization; Human SHH protein; Human MNX1 protein; Human HTR5A protein; Human EN2 protein
Genome-wide profiling of copy number alterations in triple-negative breast cancer identifies a region at 19p13 associated with lymph node metastasis
Carraro, Dirce Maria
Krepischi, Ana Cristina Victorino
Respiratory syncytial virus outbreak in neonatal intensive care unit: Impact of infection control measures plus palivizumab use
Silva, Camila de A
Baltieri, Sandra R
Takagi, Neusa Brandolise
Antimicrobial Resistance and Infection Control
The occurrence of a respiratory syncytial virus (RSV) outbreak in a Neonatal Intensive Care Unit (NICU) is related to unfavorable outcomes, as this infection can lead to respiratory distress and death in premature in infants. Report the successful control of an outbreak that occurred in April 2010 in a NICU.
After the index case, of 18 premature infants placed in the same room 10 infants were infected. Of those 10, 6 developed mild to moderate respiratory symptoms, 4 persisted asymptomatic and no death occurred. Contact and respiratory precautions were rapidly initiated, the infants were cohorted in 3 different rooms and palivizumab was administered to all contacts.
The outbreak was controlled and no new cases were subsequently indentified.
Standard infection control measures plus palivizumab prophylaxis were efficient in rapid control of the outbreak.
Respiratory syncytial virus; Outbreak; Palivizumab; Neonatal intensive care
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