Abstract: The present disclosure relates to a recombinant protein of beta-galactosidase-1 (GLB1) with a truncated C-terminus; a pharmaceutical composition for the treatment, prevention or amelioration of GM1 gangliosidosis or Morquio syndrome B, the pharmaceutical composition comprising the above protein; a method for treating, preventing or ameliorating GM1 gangliosidosis or Morquio syndrome B, the method comprising administering to a subject the above pharmaceutical composition; and a method of producing the above protein. In one embodiment of the present disclosure, the recombinant protein of GLB1 with a truncated C-terminus does not pose an issue of heterogeneous protein truncation, shows an equivalent enzymatic activity compared to a full-length GLB1 protein and increases GLB1 enzyme activity in a patient's blood. The present disclosure shows that the above protein may be used to treat, prevent or ameliorate GM1 gangliosidosis or Morphio syndrome B.

Abstract: The present disclosure proposes an apparatus for determining a bone age of teeth. The apparatus according to the present disclosure may acquire a plurality of first teeth images of a plurality of teeth corresponding to a first gender and having a first bone age, generate a plurality of pre-processed images by pre-processing the plurality of first teeth images, generate a determination filter for determining a teeth shape for the first bone age of a human body having the first gender by training the neural network model using the plurality of pre-processed images, acquire a second teeth image of teeth of a human body having a second gender and gender information indicating the second gender, and determine a second bone age of the teeth corresponding to the second teeth image based on the second teeth image and the gender information by using the determination filter.

Abstract: The present disclosure relates to a pharmaceutical composition for treating, preventing and/or ameliorating spinal muscular atrophy (SMA) and a method of administration thereof. A pharmaceutical composition for treating, preventing and/or ameliorating SMA according to an embodiment of the present disclosure may comprise a SMN protein, which is the cause of the onset of SMA. The pharmaceutical composition may be administered directly to a subject suffering from SMA via intracerebroventricular, intrathecal or intra-cisterna magna administration, thereby treating or preventing SMA or ameliorating symptoms of SMA. The pharmaceutical composition for treating, preventing or ameliorating SMA according to one embodiment of the present disclosure is safe, cost-effective and/or accessible compared to other previously approved drugs and can achieve substantially equivalent therapeutic effects.

Abstract: The present disclosure relates to a pharmaceutical composition for treating, preventing and/or ameliorating spinal muscular atrophy (SMA) and a method of administration thereof. A pharmaceutical composition for treating, preventing and/or ameliorating SMA according to an embodiment of the present disclosure may comprise a SMN protein, which is the cause of the onset of SMA. The pharmaceutical composition may be administered directly to a subject suffering from SMA via intracerebroventricular, intrathecal or intra-cisterna magna administration, thereby treating or preventing SMA or ameliorating symptoms of SMA. The pharmaceutical composition for treating, preventing or ameliorating SMA according to one embodiment of the present disclosure is safe, cost-effective and/or accessible compared to other previously approved drugs and can achieve substantially equivalent therapeutic effects.

Abstract: The present disclosure proposes an apparatus for determining a bone age. The apparatus may divide an input image capturing a human body into a plurality of segmented images, determine a first segmented image having a highest priority for a first body part from the segmented images, process each of first pixels of the first segmented image based on a reference value, select a first reference image for the first body part from a reference image set, determine whether or not a partial region matching the first reference image exists in the first segmented image processed by the reference value, upon determining that the partial region exists, determine a bone age grade of the first body part based on the first reference image, and determine a bone age of the human body based on the bone age.

Abstract: The present disclosure pertains to a composition for treatment of glutaric aciduria and an administration method therefor and, specifically, to a pharmaceutical composition comprising recombinant human glutaryl-CoA dehydrogenase (rhGCDH) for treatment of glutaric aciduria and a method for treating glutaric aciduria, the method comprising a step of administering the pharmaceutical composition. Provided according to an aspect of the present disclosure are a pharmaceutical composition comprising recombinant human glutaryl-CoA dehydrogenase (rhGCDH) for treating glutaric aciduria and a novel method for treating glutaric aciduria through in vivo administration of the pharmaceutical composition (intravenously and subcutaneously; i.v. and s. c.), whereby an excellent effect is brought about through in vivo administration remarkably easier than intraventricular administration, with the expectation of more effectively regulating and treating glutaric aciduria.

Abstract: The present disclosure includes a reception circuit and a processor. The reception circuit receives input image data comprised of pixels. The processor is configured to perform at least one of a first operation of adjusting pixel values of first object pixels selected from the pixels on the basis of noise data, a second operation of adjusting pixel values of second object pixels selected on the basis of the number of pixels, a third operation of generalizing the input image data on the basis of coordinate values of inflection pixels determined on the basis of gradients between coordinate values of the pixels, and a fourth operation of obtaining input image data having pixel values in a second range by adjusting pixel values of input image data having pixel values in the first range.

Abstract: The present disclosure proposes an apparatus for determining a bone age of teeth. The apparatus according to the present disclosure may acquire a plurality of first teeth images of a plurality of teeth corresponding to a first gender and having a first bone age, generate a plurality of pre-processed images by pre-processing the plurality of first teeth images, generate a determination filter for determining a teeth shape for the first bone age of a human body having the first gender by training the neural network model using the plurality of pre-processed images, acquire a second teeth image of teeth of a human body having a second gender and gender information indicating the second gender, and determine a second bone age of the teeth corresponding to the second teeth image based on the second teeth image and the gender information by using the determination filter.

Abstract: An aspect of the present disclosure pertains to a novel long-acting fatty acid-conjugated gonadotrophin-releasing hormone (GnRH) derivative and a pharmaceutical composition containing the same. A GnRH derivative of the present invention is expected to greatly contribute, through excellent bioavailability, increased half-life in blood, and remarkably high therapeutic effects on sex hormone-dependent disease, to the reduction in drug dosing frequency and dosage and the like in the treatment of sex hormone-dependent diseases. Particularly, the GnRH derivative can overcome the disadvantages of existing GnRH sustained-release preparations, which have the side effects of residual feeling and pain at the injection site.

Abstract: The present disclosure proposes an apparatus for determining a bone age. The apparatus may divide an input image capturing a human body into a plurality of segmented images, determine a first segmented image having a highest priority for a first body part from the segmented images, process each of first pixels of the first segmented image based on a reference value, select a first reference image for the first body part from a reference image set, determine whether or not a partial region matching the first reference image exists in the first segmented image processed by the reference value, upon determining that the partial region exists, determine a bone age grade of the first body part based on the first reference image, and determine a bone age of the human body based on the bone age.

Abstract: The present invention relates to a novel long-acting palmitic acid-conjugated gonadotrophin-releasing hormone (GnRH) derivative and a pharmaceutical composition containing the same. A GnRH derivative of the present invention is expected to greatly contribute, through excellent bioavailability and increased half-life in blood, to the reduction in drug dosing frequency and dosage and the like in the treatment of sex hormone-dependent diseases. Particularly, the GnRH derivative can overcome the disadvantages of existing GnRH sustained-release preparations, which have the side effects of residual feeling and pain at the injection site.

Abstract: An aspect of the present disclosure pertains to a novel long-acting fatty acid-conjugated gonadotrophin-releasing hormone (GnRH) derivative and a pharmaceutical composition containing the same. A GnRH derivative of the present invention is expected to greatly contribute, through excellent bioavailability, increased half-life in blood, and remarkably high therapeutic effects on sex hormone-dependent disease, to the reduction in drug dosing frequency and dosage and the like in the treatment of sex hormone-dependent diseases. Particularly, the GnRH derivative can overcome the disadvantages of existing GnRH sustained-release preparations, which have the side effects of residual feeling and pain at the injection site.

Abstract: The present invention relates to a novel long-acting palmitic acid-conjugated gonadotrophin-releasing hormone (GnRH) derivative and a pharmaceutical composition containing the same. A GnRH derivative of the present invention is expected to greatly contribute, through excellent bioavailability and increased half-life in blood, to the reduction in drug dosing frequency and dosage and the like in the treatment of sex hormone-dependent diseases. Particularly, the GnRH derivative can overcome the disadvantages of existing GnRH sustained-release preparations, which have the side effects of residual feeling and pain at the injection site.

Abstract: Provided herein are recombinant adeno-associated virus (rAAV) vectors comprising nucleic acid encoding N-acetyl-glucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB) and at least one AAV inverted terminal repeat (ITR). In some embodiments, the rAAV vectors may be included in a rAAV particle, which may be contained in pharmaceutical compositions and kits. These vectors, particles, compositions, and kits may find use, inter alia, in methods and uses related to treating mucolipidosis type II (ML II) or mucolipidosis type III (ML III) in a mammal, or related to increasing body size, bone mineral content, and/or bone mineral density in a mammal with mucolipidosis type II (ML II) or mucolipidosis type III (ML III).

Abstract: The present invention provides a diagnostic method for congenital adrenal hyperplasia, comprising the steps of: preparing oligonucleotide chip in which 7 sets of tandem cDNA fragments of normal and patient's 21-hydroxylase gene (exon 1, intron 2, exon 4) are immobilized to solid support; amplifying the DNA segments of 21-hydroxylase gene (exon 1, intron 2, exon 4) from the genomnic DNA of a testee using labeled primers under the suitable condition for carrying out polymerase chain reaction (PCR); hybridizing 7 sets of tandem cDNA fragments in oligonucleotide chip with the PCR product by amplifying gDNA segments; and analyzing the results of the hybridization.

Abstract: The invention provides a diagnostic method and kits for SCA III syndrome. The method comprises attaching a portion of SCA III gene containing copies of 73 trinucleotide(CAG) repeat units to a substrate; amplifying a DNA segment containing copies of the trinucleotide repeat units from the genomic DNA of a testee using two labeled primers under the suitable condition for carrying out polymerase chain reaction (PCR); hybridizing the gene with the PCR product by amplifying DNA segment; and analyzing the results of the hybridization. A SCA III patient can be effectively diagnosed by examining the increase extent of the number of the TNR characteristic of the disease-associated gene with the aid of reverse dot hybridization technique or PCR-MPH.