Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.

Growth hormone deficiency (GHD) results from variations affecting the production and release of growth hormone (GH) and is of 2 types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). IGHD results from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1, and HESX1. The present study reports on screening of POU1F1, PROP1, and HESX1 in CPHD patients and the novel variations identified. Fifty-one CPHD patients from 49 unrelated families clinically diagnosed on the basis of biochemical and imaging investigations along with 100 controls were enrolled. Detailed family history was noted from all participants and 5 ml blood samples drawn were processed for DNA isolation followed by direct sequencing of POU1F1, PROP1, and HESX1genes. Of the 51 patients, 8 were females and 43 were males. Mean height standard deviation score (SDS) and weight SDS were -5.50 and -2.76, respectively. Thirty-six of the 51 patients underwent MRI of which 9 (25%) had normal pituitary structure and morphology while 27 (75%) showed abnormalities. Molecular analysis revealed 10 (20%) patients to have POU1F1 and PROP1 mutations/variations of which 5 were novel and 2 previously reported. No mutations were identified in HESX1. The novel variations identified were absent in the 100 healthy individuals screened and the control database Exome Aggregation Consortium (ExAC). Reported POU1F1 and PROP1 mutation hotspots were absent in our patients. Instead, novel POU1F1 changes were identified suggesting existence of a distinct mutation spectrum in our population.

Prolonged Itraconazole Therapy as Sole Treatment for Patients with Allergic Fungal Rhinosinusitis.

BACKGROUND: Currently, the mainstay of treatment for allergic fungal rhinosinusitis (AFRS) is surgical debridement along with topical or systemic steroids. However, prolonged systemic steroid therapy comes with side effects and is also sometimes contraindicated. Systemic antifungals have been used earlier as an adjunct to steroids or in refractory cases, but they have not been used as the sole primary treatment. OBJECTIVE: To study the effectiveness of sole Itraconazole therapy in patients with AFRS by comparison of clinical, radiological, and biochemical parameters before and after treatment. METHODS: Thirty-four patients diagnosed with localized sino-nasal AFRS were recruited and started on the tablet Itraconazole 200 mg orally twice daily for 3 months with q2weekly monitoring of liver function tests. The baseline clinical, radiological, and biochemical parameters were then compared with those after completion of 3 months of Itraconazole therapy. RESULTS: There was significant difference between all the parameters-clinical: SNOT-22 score (p < 0.001) and Meltzer endoscopy score (p < 0.001), radiological: Lund-Mackay score (p = 0.004) and 20-point CT score (p = 0.002), and biochemical: serum total IgE (p < 0.001), Aspergillus-specific IgE (p < 0.001), and absolute eosinophil count (p < 0.001). The clearance of the disease was more in anterior sinuses than the posterior ones. CONCLUSION: Prolonged Itraconazole can be given as sole therapy in AFRS, especially in patients for whom steroids are contraindicated or in those who are awaiting surgery. It can result in symptomatic and radiological improvement, but surgery still remains the definitive treatment option for AFRS for complete clearance of disease. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:545-551, 2024.

Facial neuritis in coronavirus disease 2019 associated mucormycosis: study on clinico-radiological correlates.

OBJECTIVE: To elucidate the aetiopathogenesis of facial neuritis in coronavirus disease 2019 associated mucormycosis. METHODS: A retrospective review was conducted of coronavirus disease 2019 associated mucormycosis patients who presented with peripheral facial nerve palsy from January 2021 to July 2021. The clinico-radiological details of four patients were assessed to examine the potential mechanism of facial nerve involvement. RESULTS: Serial radiological evaluation with contrast-enhanced computed tomography and contrast-enhanced magnetic resonance imaging revealed infratemporal fossa involvement in all cases, with the inflammation extending along fascial planes to reach the stylomastoid foramen. Ascending neuritis with an enhancement of the facial nerve was demonstrated in all cases. CONCLUSION: The likely explanation for facial palsy in patients with coronavirus disease 2019 associated mucormycosis, backed by radiology, is the disease abutting the facial nerve at the stylomastoid foramen and causing ascending neuritis of the facial nerve.

Abdominal lymphatic tuberculosis and portal hypertension.

Abdominal tuberculosis involving the portal vasculature is a rare phenomenon. We retrospectively reviewed the imaging findings of 183 cases of abdominal tuberculosis at our institution from 2002 to 2010 and found thrombosis of the splenoportal axis associated with abdominal lymphadenopathy in seven patients. However, there was no relationship between the lymph nodal size and development of thrombosis. Reversibility was noted in one patient, who had near complete recanalisation of portal vein. Mechanisms, other than direct mass effect on the splenoportal axis, may be involved, like contiguous spread of inflammation or granulomas in the vessel wall.

Role of Image Guided Navigation in Endoscopic Surgery of Paranasal Sinuses: A Comparative Study.

The aim of the current study is to share our experience with surgical outcomes of Functional Endoscopic Sinus Surgery using an image-guidance system. The study was a randomised control trial with the comparison between two groups. Image guidance system (Electromagnetic) was used for endoscopic surgery on patients with disease of the paranasal sinuses (n = 30). Results were compared with those in control patients who underwent similar surgery without image guidance during the same period (n = 30). The operating room time (image-guidance group, 165.68 ± 6.55 min [mean ± SE]; control group, 163.33 ± 5.43 min), Intraoperative anatomical localization was accurate to within 2 mm. Intraoperative blood loss (image-guidance group, 566.67 ± 62.23 ml [mean ± SE]; control group, 636.33 ± 72.59 mL) and complication rates (image-guidance group, 3.3%; control group, 3.3%) did not differ significantly between groups. We find image guidance system a useful tool with accuracy of 2 mm. Actual intraoperative time, blood loss and complications do not differ significantly with or without the use of IGS.

Temporal bone meningoencephaloceles and cerebrospinal fluid leaks: experience in a tertiary care hospital.

OBJECTIVE: To recount experience with cerebrospinal fluid otorrhoea and temporal bone meningoencephalocele repair in a tertiary care hospital. METHOD: A retrospective review was conducted of 16 cerebrospinal fluid otorrhoea and meningoencephalic herniation patients managed surgically from 1991 to 2016. RESULTS: Aetiology was: congenital (n = 3), post-traumatic (n = 2), spontaneous (n = 1) or post-mastoidectomy (n = 10). Surgical repair was undertaken by combined middle cranial fossa and transmastoid approach in 3 patients, transmastoid approach in 2, oval window plugging in 1, and subtotal petrosectomy with middle-ear obliteration in 10. All patients had successful long-term outcomes, except one, who experienced recurrence after primary stage oval window plugging, but has been recurrence-free after second-stage subtotal petrosectomy with middle-ear obliteration. CONCLUSION: Dural injury or exposure in mastoidectomy may lead to cerebrospinal fluid otorrhoea or meningoencephalic herniation years later. Congenital, spontaneous and traumatic temporal bone defects may present similarly. Middle cranial fossa dural repair, transmastoid multilayer closure and subtotal petrosectomy with middle-ear obliteration were successful procedures. Subtotal petrosectomy with middle-ear obliteration offers advantages over middle cranial fossa dural repair alone; soft tissue closure is more robust and is preferred in situations where hearing preservation is not a priority.

Dielectric and pyroelectric properties of triglycerol-gelatin films.

The dielectric and pyroelectric properties of triglycerol-gelatin thick films were studied as a function of temperature and frequency. The films exhibited a strong dispersion in the dielectric permittivity accompanied by a high dielectric loss near room temperature. The pyroelectric current measured by the static Byer-Roundy method is heavily dominated by the thermally stimulated currents. Measurements performed on prepoled samples using the dynamic technique of A.G. Chynoweth (1956) clearly proved the presence of a true, reversible pyroelectric response in the examined films. The value of the pyroelectric coefficient of the films was found to be comparable to that of polyvinylidene fluoride (PVDF).

Bilateral parotid swelling: a radiological review.

Bilateral parotid swelling is not an uncommon occurrence and may pose a challenge for clinicians and radiologists. Numerous causes of bilateral parotid swellings have been identified. The purpose of this pictorial review is to display this wide array with a focus on multimodality approach.

MR sialography of iatrogenic sialocele: comparison with conventional sialography.

OBJECTIVE: The objective of this study was to compare the conventional sialography with MR sialography in a series of patients with iatrogenic sialocele (sialocyst). METHODS: 50 salivary glands in 39 patients with suspected inflammatory disease of the salivary gland underwent conventional sialography and MR sialography. Out of these 39 patients, 6 patients (age range: 16-35 years; 4 males and 2 females; mean age: 23.8 years) had sialoceles and formed our study group. MR sialography findings were compared with conventional sialography findings regarding demonstration of ductal anatomy, the cyst and its communication with the ductal system. RESULTS: MR sialography demonstrated the site of communication of the sialocyst with the ductal system in all six patients. MR provided additional information over conventional sialography in five cases. In four cases, the ductal system proximal to the cyst was not opacified on digital sialography but was well visualized in all cases by MR sialography. Constructive interference in steady-state (CISS) sequence demonstrated the intraglandular ducts and communication of cysts with ducts better than half-fourier acquisition single-shot turbo-spin echo (HASTE) images. CONCLUSION: Our preliminary results suggest that MR sialography is a robust, non-invasive method for demonstrating the ductal system up to second-order branches, the site of ductal injury and the focal cystic lesion. MR provided at least the same information as conventional sialography in the evaluation of site of communication but provided additional information about the sialocyst and upstream ductal system in five cases. Being a non-invasive modality, we recommend MR sialography as the investigation of choice in the evaluation of an iatrogenic sialocyst.

Imaging in postpneumonectomy complications: a pictorial review.

Pneumonectomy is done in patients with operable bronchogenic cancer and intractable end-stage lung diseases such as tuberculosis and bronchiectasis. It is often followed by postoperative complications with an incidence of 20-60%. Factors influencing the incidence and type of complication after lung resection include age, physical status, and procedure. Many of these complications are life threatening and require appropriate immediate management. Therefore, the knowledge of diverse radiologic appearances of these complications and familiarity with the clinical settings in which specific complications are likely to occur are vital for prompt and effective treatment. This pictorial review intends to educate the radiologists and clinicians regarding early detection of these complications.

Vocal cord schwannoma: a rare case report.

Schwannomas of the larynx are rare benign tumors, most commonly involving aryepiglottic folds or false vocal folds. When a tumor involves vocal cord, it causes clinical symptoms like hoarseness of voice and foreign body sensation. We report the CT and magnetic resonance imaging findings in a 19-year-old male patient with vocal cord mass histologically diagnosed as a vocal cord schwannoma.

Electric field-induced orthogonal polarization switching in morphotropic phase boundary Pb(0.57)Ba(0.43)Nb(2)O(6) (PBN57) single crystals.

Tungsten bronze crystals of Pb(0.57)Ba(0.43)Nb(2)O(6) composition near the morphotropic phase boundary were examined for possible switching of the polarization vector. It is demonstrated that for the single crystal lead barium niobate of tetragonal symmetry, the polarization vector can be switched orthogonally to an orthorhombic phase simply by the application of an electric field.

Temperature dependence of optical constants of MoS(2) for pyrooptical devices.

The temperature sensitivity of the reflectance of MoS(2) under small temperature modulations has been investigated.It is feasible to detect temperature changes of 10(-2) degrees C by monitoring the reflectance, and thus MoS(2) is a potential candidate material for the pyrooptical sensors.