Invasive fungal infections may cause morbidity and mortality in pediatric patients with hematologic and oncologic malignancies treated with intensive protocols. We present a case of mucormycosis in an 8-year-old boy with acute lymphoblastic leukemia. In our patient, the suspicion for an oculoorbital and paranasal infection only due to mild pain in the orbital area without any abnormal pathologic findings in the ophthalmologic and otolaryngologic examination, led us to an early diagnosis. Despite the use of antifungal therapy, the lesion persisted and fever subsided after surgical drainage of the periorbital abscess. Antifungal treatment continued during chemotherapy. He has been in remission for four years. Mucormycosis should be in the differential diagnosis in infections in children with cancer, especially leukemia, according to clinical and radiologic findings. A high degree of suspicion and prompt systemic empirical antifungal therapy, as well as surgical debridement, are crucial for the survival of patients. Beside antifungals, early surgery plays an important role in patients with mucormycosis.Invaziv fungal enfeksiyonlar, yoğun tedaviler alan çocukluk çağı kanserlerinde mortalite ve morbiditenin önemli bir nedenidir. Bu yazıda, akut lenfoblastik lösemi tanılı sekiz yaşındaki erkek hastada saptanan mukormikoz enfeksiyonu irdelenmiştir. Ateş ve orbita etrafında hafif ağrı saptanan olgumuzda, kulak burun boğaz ve oftalmolojik değerlendirmede patolojik bulgu olmamasına rağmen, okuloorbital ve paranazal enfeksiyonun düşünülmesi, bizi erken tanıya götürdü. Görüntülemede saptanan periorbital apse, antifungal tedaviye ragmen gerilemedi ve cerrahi drenaj sonrasi ateş düştü. Kemoterapi boyunca antifungal tedavisine devam edilen hasta, tedavi bitiminden sonra dört yıldır hastalıksız izlenmektedir. Çocukluk çağı kanserlerinde, özellikle lösemi tanılı hastaların enfeksiyonlarda, klinik ve radyolojik bulgular dogrultusunda mukormikoz ayırıcı tanıda düşünülmelidir. Bu infeksiyonun ayırıcı tanıda düşünülmesi, hızla sistemik antifungal tedavi başlanması, ve cerrahi debridman hastaların hayatta kalmaları için çok önemlidir. Antifungal tedavi yanında, erken cerrahi drenaj, mukormikoz tedavisinde önemli rol oynar.
Metastasis predominantly occurs via the lymphatic system in head and neck tumors. The disturbance of the lymphatic system in the cervical region resulting from neck dissection or radiotherapy may result in unusual patterns of metastasis in patients with recurrent tumors. This is more frequent when the recurrent tumor invades the myocutaneous flap used for the primary reconstruction. We encountered three patients (2 men, 1 woman) with infraclavicular lymph node metastasis. All were previously treated by surgery, postoperative radiation therapy, and reconstruction with the use of the pectoralis major myocutaneous flap.
Abstract Background: Serum paraoxonase 1 is involved in mechanisms that protect cells from oxidative stress damage. This study aimed to investigate the correlation between serum paraoxonase 1 activity and polymorphisms in patients with oral squamous cell carcinoma. Methods and materials: Fifty-seven patients with oral squamous cell carcinoma and 59 matched healthy controls participated in the study. Serum paraoxonase 1 activity and polymorphisms in blood samples were compared with results for polymerase chain reaction and restriction fragment length polymorphism tests. Results: Mean serum paraoxonase 1 activity levels were lower in patients than controls (mean ± standard deviation, 21.9 ± 5 units/l and 120.4 ± 2 units/l, respectively) ( p = 0.001). The serum paraoxonase 1 192 glutamine polymorphism was more common in patients than controls. Conclusion: Patients with oral squamous cell carcinoma had significantly lower serum paraoxonase 1 activity levels and a greater prevalence of the serum paraoxonase 1 192 glutamine allele, compared with controls. Serum paraoxonase 1 may play a role in the aetiology of oral squamous cell carcinoma.
Mutations in genes encoding gap‐ and tight‐junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2 [connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with autosomal‐recessive inherited non‐syndromic sensorineural hearing loss (NSSHL). GJB2 mutations were found in 31.7% of the families, and the GJB2– 35delG mutation accounted for 73.6% of all GJB2 mutations. The carrier frequency of GJB2– 35delG in the normal Turkish population was found to be 1.17% (five in 429). In addition to the described W24X, 233delC, 120delE and R127H mutations, we also identified a novel mutation, Q80R, in the GJB2 gene. Interestingly, the Q80R allele was inherited on the same haplotype as V27I and E114G polymorphisms. As little is known about the mutation frequencies of most other recently identified gap‐ and tight‐junction genes as a cause for hearing loss, we further screened our patients for mutations in GJB3 (Cx31), GJA1 (Cx43), Δ GJB6 –D13S1830 (Cx30) and the gene encoding the tight‐junction protein, claudin 14 ( CLDN14 ). Several novel polymorphisms, but no disease‐associated mutations, were identified in the CLND14 and GJA1 genes, and we were unable to detect the Δ GJB6 –D13S1830 deletion. A novel putative mutation, P223T, was found in the GJB3 gene in heterozygous form in a family with two affected children. Our data shows that the frequency of GJB2 mutations in Turkish patients with autosomal‐recessive NSSHL and the carrier rate of the GJB2– 35delG mutation in the Turkish population, is much lower than described for other Mediterranean countries. Furthermore, mutations in other gap‐ and tight‐junction proteins are not a frequent cause of hearing loss in Turkey.
In the conventional supracricoid laryngectomy technique, tumors extending beyond the lingual surface of the epiglottis with tongue base invasion are contraindicated due to the requirement of the hyoid bone resection. The loss of the hyoid bone causes intractable aspiration and renders the cricoidal pexy process impossible. Therefore, surgeons tend to treat such tumors with total or subtotal laryngectomies or organ preservation protocols. In this article, a new supracricoid partial laryngectomy technique for tumors requiring resection of the hyoid bone and the base of the tongue was described.
UNLABELLED Head and neck reconstruction with dorsoradial forearm free flap: a preliminary clinical study. PROBLEMS/OBJECTIVES The most common criticism of the radial forearm free flap (RFFF) is donor site morbidity. Delayed or defected integration of split thickness skin graft (STSG) is the most commonly encountered complication. Defective healing or excessively thin skin coverage of important forearm structures, such as the median nerve and ulnar artery-nerve bundle, places these structures at increased risk of injury. The current study aims to modify the RFFF to utilize a dorsoradial skin island in order to protect the volar tissue aspect of these structures. METHODOLOGY Seven patients were included in the study between 2005 and 2008. All patients had oncologic resections in the oral cavity necessitating free tissue transfer. The main variation from the standard RFFF technique is that the medial incision was placed 1 cm lateral to the palmaris longus tendon. The dissection was extended laterally and dorsally, depending on the necessary flap size. The donor side defect was covered with a thigh STSG. RESULTS None of the patients had partial or complete flap necrosis. This surgical modification provided tissue coverage along the course of the median nerve and ulnar neurovascular bundle. CONCLUSIONS Dorsoradial forearm free flap is a feasible technique that allows preservation of tissue coverage on the volar surface of the forearm.
In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea.
